Section Editors: Deborah T. Glassman, MD
Alana M. Murphy, MD
11β-HYDROXYLASE (CYP11B1) DEFICIENCY
DESCRIPTION Comprises 5–8% of congenital adrenal hyperplasia (CAH) cases. Autosomal recessive disorder that manifests as childhood hypertension, hypokalemia, and muscle weakness. Low plasma renin activity is a hallmark. A deficiency in 11β-hydroxylase leads to low cortisol levels, high adrenocorticotropic hormone levels, and adrenal hyperplasia. Afflicted females are virilized and may have male-appearing genitalia. Males may be hyperdeveloped. Diagnosed by high levels of deoxycorticosterone and/or 11-deoxycortisol in serum or their tetrahydro-metabolites in a 24-hr urine. (See also Section I: “Disorders of Sexual Development [DSD]”; Section II: “Congenital Adrenal Hyperplasia.”)
TREATMENT
• Oral hydrocortisone (10–20 mg/m2/d)
• Refractory hypertension treated with spironolactone, amiloride, and/or calcium channel blockers
• Surgical correction of ambiguous genitalia in females
• Prenatally treated with steroid administration to mother
REFERENCE
White PC. Steroid 11 beta-hydroxylase deficiency and related disorders. Endocrinol Metab Clin North Am. 2001;30(1):61–79.
2,8-DIHYDROXYADENINE (2,8-DHA) UROLITHIASIS
DESCRIPTION Adenine phosphoribosyltransferase (APRT) deficiency is a defect of purine metabolism and is inherited as an autosomal recessive trait. APRT is a salvage enzyme that catalyzes the conversion of adenine to adenosine monophosphate. The APRT deficiency results in adenine accumulation with oxidation by xanthine dehydrogenase (XDH) to 2,8-dihydroxyadenine (2,8-dihydroxyadenine or 2,8-DHA) then excreted in urine. This compound is extremely insoluble and its crystallization can lead to stone formation and renal failure. The diagnosis is based on stone analysis by infrared spectroscopy or exam of urine, which may reveal typical 2,8-DHA crystals.
TREATMENT
The crystallization of 2,8-DHA and subsequent renal damages may be prevented with allopurinol therapy, a xanthine oxidase inhibitor.
REFERENCE
Bouzidi H, Lacour B, Daudon M. 2,8-dihydroxyadenine nephrolithiasis: From diagnosis to therapy. Ann Biol Clin (Paris). 2007;65(6):585–592.
21-HYDROXYLASE (CYP21A2) DEFICIENCY
DESCRIPTION Responsible for >90% of CAH cases. This enzyme deficiency leads to low cortisol levels and high ACTH level, leading to adrenal hyperplasia. It is the most common cause of female pseudohermaphrodism. Most have aldosterone deficiency, which can lead to fatal salt wasting. Untreated patients are tall as children but short as adults. Untreated females may have secondary amenorrhea or polycystic ovarian syndrome. Males may have small testes with precocious secondary sexual characteristics. Diagnosed by elevated 17α-hydroxyprogesterone levels in serum with ACTH stimulation test. (See also Section I: “Disorders of Sexual Development [DSD]”; Section II: “Congenital Adrenal Hyperplasia.”)
TREATMENT
• Oral hydrocortisone (10–20 mg/m2/d)
• 9α-fluorohydrocortisone for salt wasters
• Surgical correction of ambiguous genitalia in females
• Prenatally treated with steroid administration to mother
REFERENCE
White PC, Bachega TA. Congenital adrenal hypoplasia due to 21 hydroxylase deficiency: From birth to adulthood. Semin Reprod Med. 2012;30(5):400–409.
5α-REDUCTASE DEFICIENCY
DESCRIPTION An autosomal recessive disorder characterized by a 46XY male with external female phenotype at birth, normally developed wolffian structures, and bilateral testes residing outside the abdominal cavity. The primary etiology is the loss of dihydrotestosterone (DHT) during fet al development. Hypoplasia or absence of the prostate and a blind-ending vagina are common. Virilization occurs at puberty. Diagnosed by normal-to-high male plasma testosterone levels, abnormal ratios of serum testosterone to DHT, or abnormal ratios of urinary 5α- to 5β-steroid metabolites. (See also Section I: “Disorders of Sexual Development [DSD].”)
TREATMENT
• Male gender assignment: Genital reconstruction and supplemental androgen
• Female gender assignment: Orchiectomy, estrogen/progesterone therapy, and vaginoplasty
REFERENCE
Cheon CK. Practical approach to steroid 5-alpha-reductase type 2 deficiency. Eur J Pediatr. 2011;170(1):1–8.
AARSKOG SYNDROME (FACIODIGITOGENITAL SYNDROME)
DESCRIPTION A malformation syndrome carried by both an X-linked and an autosomal dominant form. Primary diagnostic criteria include short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing, clinodactyly, and shawl scrotum. Cardiac abnormalities are also reported. There is no specific treatment.
REFERENCE
Teebi AS, Rucquoi JK, Meyn MS. Aarskog syndrome: Report of a family with review and discussion of nosology. Am J Med Genet. 1993;46(5):501–509.
ABDOMINOPERINEAL RESECTION (APR), UROLOGIC CONSIDERATIONS
DESCRIPTION Commonly performed for rectal cancers in which the rectum, anus, and a portion of the sigmoid colon are removed (also known as Miles resection or abdominal perineal proctosigmoidectomy). The extensive pelvic dissection can lead to a number of urologic problems. Urinary retention and urinary incontinence represent 2 distinct urologic complications after abdominoperineal resection (APR). Injury to detrusor branches of the pelvic nerve can cause detrusor denervation and urinary retention. In addition, injury to intrapelvic branches of the pelvic and pudendal nerves to the urinary sphincter can result in intrinsic sphincter deficiency (ISD) and urinary incontinence. Impotence and urinary retention can occur in males; urinary incontinence and altered sexual function may occur in females, secondary to removal of the anterior vaginal wall. Damage to the ureters is not uncommon during the procedure.
TREATMENT
• Stent placement preoperatively may help in identifying the ureters.
• Intermittent catheterization for retention; TURP or other bladder outlet procedure may be considered preoperatively in men with BPH.
• Impotence managed with penile prosthesis, vacuum device, or intracorporal therapy.
REFERENCE
Lange MM, van de Velde CJ. Urinary and sexual dysfunction after rectal cancer treatment. Nat Rev Urol. 2011;8(1):51–57.
ABRAMS–GRIFFITHS NOMOGRAM
DESCRIPTION Bladder outlet obstruction can be defined only by pressure–flow measurement. The Abrams–Griffiths nomogram is an easy method of classifying these data to distinguish between the presence or absence of obstruction. Using the values for maximal flow and the corresponding voiding detrusor pressure, a point can be plotted on the nomogram that determines whether the bladder outlet is obstructed, unobstructed, or equivocally obstructed. For those that fall in the equivocal zone, further criteria for the mean slope of the pressure–flow plot and the minimal voiding detrusor pressure are used to determine whether obstruction is present. The nomogram has shown excellent prognostic value in multiple studies in predicting the outcome of outlet reduction procedures. Although the Abrams–Griffiths nomogram is somewhat simplistic, none of the more complex methods of pressure–flow analysis has been shown to be a better predictor of treatment outcome to date. (See also Section II: “Pressure–Flow Studies” and “Urodynamics, Indications, and Normal Values.”)
REFERENCE
Lim CS, Abrams P. The Abrams-Griffith nomogram. World J Urol. 1995;13:34.
ACETAMINOPHEN ABUSE, UROLOGIC CONSIDERATIONS
DESCRIPTION 1–2% of patients with acetaminophen overdose present with renal insufficiency. Proposed mechanisms for etiology are uncertain, but may involve increased cytochrome P-450, prostaglandin synthetase, and N-deacetylase enzymes. Although clinical management rarely leads to renal biopsy, histopathologic specimens would most likely show proximal tubule epithelial cell necrosis. A urinalysis can differentiate acetaminophen nephrotoxicity from hepatorenal syndrome (HRS) or prerenal azotemia. If acetaminophen nephrotoxicity is the etiology of renal insufficiency, a urine sediment would have granular casts with variable hematuria or pyuria. Urine sodium would typically be >20 mmol/L, compared to <10 mmol/L with HRS. Onset of renal insufficiency ranges from 1–8 days (peak 3–16 days). The return to baseline renal function may take approximately 1 mo with a 1% chance of requiring dialysis. There is no clear relationship between acetaminophen dose and nephrotoxicity.
TREATMENT
• N-acetylcysteine has a clear role in preventing liver necrosis but not in the treatment of acetaminophen nephrotoxicity.
• Treatment focuses on supportive care, including management of volume status, blood pressure, and electrolyte balance.
REFERENCE
Mazer M, Perrone J. Acetaminophen-induced nephrotoxicity: Pathophysiology, clinical manifestations, and management. J Med Toxicol. 2008;4:2–6.
ACQUIRED RENAL CYSTIC DISEASE
DESCRIPTION The development of renal cysts in patients with long-standing ESRD or severe chronic renal insufficiency. The cause is not known, but an accumulation of toxins unfiltered by dialysis is theorized. Usually asymptomatic, it can present with abdominal pain or hematuria. It is more common in males, and there is a 3–6 times greater incidence of renal cell carcinoma (RCC) compared to the general population (individual risk 4–7%). In dialysis-related RCC, neoplastic cells of acquired cystic disease-associated RCC are positive for alpha-methylacyl-CoA racemase (AMACR), but negative for cytokeratin (CK) 7. Tumors tend to be very aggressive, with a high incidence of metastasis. Risk increases with increased time on dialysis. (See also Section I: “Renal Cysts [Intrarenal, Peripelvic and Parapelvic].”)
TREATMENT
• Close follow-up for early detection of malignancy (periodic imaging)
• Renal transplantation can reverse growth of cysts, but malignancy can still occur
REFERENCE
Farivar-Mohseni H, Perlmutter AE, Wilson S, et al. Renal cell carcinoma and end stage renal disease. J Urol. 2006;175(6):2018–2020.
ACROSOME REACTION ASSAY
DESCRIPTION The acrosome is a membrane-bound organelle covering the anterior 2/3 of the sperm head. This organelle contains numerous enzymes whose release, termed the acrosome reaction, is required for penetration of the hard zona pellucida of the ovum. It is hypothesized that human sperm bind to the ovum, after which the acrosome reaction is induced by 1 or more of the zona pellucida glycoproteins. Abnormalities of any aspect of this reaction may be a source of male-factor infertility. Transmission electron microscopy, although the procedure of choice to detect acrosome reaction defects, is labor-intensive and expensive. This test may be recommended in cases of profound abnormalities of head morphology or in the setting of unexplained infertility in patients with poor IVF pregnancy rates. (See also Section II: “Semen Analysis, Technique, and Normal Values.”)
REFERENCE
Agarwal A. Assessing sperm function. Urol Clin North Am. 2008;35(2);157–171.
ACTINOMYCOSIS, RENAL
DESCRIPTION Actinomycosis is a chronic granulomatous infection caused by a gram-positive anaerobic Actinomyces bacteria, usually A. israelii. No pathognomonic findings are common; it can reach the kidney by hematogenous spread or instrumentation. Fibrosis and fistulas are common. The infection can present as sepsis with negative urine culture. Imaging can reveal renal abscesses and hydronephrosis, and the condition has been typically diagnosed postoperatively due to a renal mass prompting nephrectomy; it is diagnosed by gram-positive organisms on stain and prolonged incubation of bacteria. Microscopic exam of the organism can appear as yellow bodies called sulfur granules.
TREATMENT
• Nephrectomy of involved renal unit is usually necessary
• Aggressive antibiotic therapy with long-term penicillin followed by doxycycline and ciprofloxacin
REFERENCE
Dhanani NN, Jones DM, Grossman HB. Medical management of renal actinomycosis. J Urol. 2004;171(6 Part 1):2373–2374.
ACUTE KIDNEY INJURY (AKI), DEFINITIONS
DESCRIPTION Acute renal failure (ARF) has been defined as the abrupt loss of kidney function resulting in the retention of urea and other nitrogenous waste products and in the dysregulation of extracellular volume and electrolytes. While this loss in kidney function is detected by elevated serum creatinine, several problems are associated with the use of this measure to quantitatively define ARF, particularly the lack of consensus in the quantitative definition. The Acute Dialysis Quality Initiative (ADQI) has proposed a graded definition of ARF called the RIFLE criteria. The Acute Kidney Injury Network modified the RIFLE criteria to include less severe ARF, a time constraint of 48 hr, and to allow for correction of volume status and obstructive causes of ARF prior to classification. The Acute Kidney Injury Network uses the term acute kidney injury (AKI) to represent the spectrum of ARF. The proposed diagnostic criteria for AKI are: An abrupt (<48 hr) increase in creatinine concentration of ≥0.3 mg/dL (26.4 mmol/L) from baseline, a percentage increase in the serum creatinine ≥50%, or oliguria of <0.5 mL/kg/h for >6 hr. (See also Section I: “Acute kidney Injury, Adult (Renal Failure, Acute), Acute Kidney Injury, Pediatric (Renal Failure, Acute); Section II “Rifle Criterion for Acute Renal Injury.”)
REFERENCE
Levin A, Warnock DG, Mehta RL, et al. Improving outcomes from acute kidney injury: Report of an initiative. Am J Kidney Dis. 2007;50:1–4.
ADENOFIBROMA, METANEPHRIC, PEDIATRIC
DESCRIPTION Metanephric adenofibroma is a very rare benign tumor 1st described as nephrogenic adenofibroma by Hennigar and Beckwith in 1992. This tumor appears to affect predominantly young people (mean, 14 yo; range, 20 mo–35 yo). The most common symptom is hematuria, but a significant proportion of patients are asymptomatic. Polycythemia is a peculiar incidental finding that resolves after resection of the tumor. The radiologic appearances are nondiagnostic and indistinguishable from other solid pediatric renal tumors, particularly Wilms tumor. Histologically, this tumor is characterized by proliferation of benign-appearing mesenchymal cells surrounding multifocal nodules of immature epithelial cells. The latter cells show differentiation toward glandular and papillary structures. The mesenchymal component of metanephric adenofibroma closely resembles congenital mesoblastic nephroma in cytologic appearance. At present, all metanephric adenofibroma lesions should be excised to establish diagnosis, but no further adjuvant therapy is required.
REFERENCES
Hennigar RA, Beckwith JB. Nephrogenic adenofibroma. A novel kidney tumor of young people. Am J Surg Pathol. 1992;16:325–334.
Palese MA. Metanephric stromal tumor: A rare benign pediatric renal mass. Urology. 2001;58:462.
ADRENAL ANGIOMYOLIPOMA
DESCRIPTION Angiomyolipoma arising the adrenal is very rare with only a few reported in the literature. They are usually asymptomatic, diagnosed incidentally, and much more common in the kidney. Histologically it consists of mature fat cells, smooth muscle fibers, and thin-walled blood vessels. Management is identical to any adrenal mass: Assessment of functional status of the tumor with surgery if the patient is symptomatic or lesion is >5 cm (risk of malignancy and possibly bleeding). (See also Section I: “Adrenal Mass" and Section II: “Adrenal; Myelolipoma [Adrenal Myolipoma].”)
REFERENCE
Yener O, Özçelik A. Angiomyolipoma of the right adrenal gland. ISRN Surg. 2011;2011:102743.
ADRENAL CALCIFICATIONS
DESCRIPTION Adrenal calcifications may be the result of hemorrhage (secondary to trauma, venous thrombosis, stress, or bleeding diatheses), infection (usually granulomatous diseases), or may be associated with different tumors. Necrosis and calcification are more common in association with adrenal carcinoma but are not diagnostic. Bilateral calcified adrenal glands may be seen in adrenal insufficiency or secondary Addison disease. Calcifications may be detected on MRI because of their susceptibility artifact but are much better appreciated on CT images.
REFERENCE
Kenney PJ, Stanley RJ. Calcified adrenal masses. Urol Radiol. 1987;9:9–15.
ADRENAL CYSTS AND PSEUDOCYSTS
DESCRIPTION A rare (0.064–0.18% on autopsy studies) condition, more often detected on imaging. Most are asymptomatic. These cysts can cause GI discomfort, pain if large, and even an acute abdomen with rupture or infection. Four major types are recognized: Endothelial, pseudocyst, epithelial, and parasitic, in order of decreasing incidence. Parasitic cysts arise primarily from Equinococcus granulosusinfection. Adrenal pseudocysts are thought to result from infarction or hemorrhage of a cyst or tumor.
TREATMENT
• >3.5 cm: Aspiration for fluid analysis and cytology to rule out malignancy
• <3.5 cm: Observe with serial imaging (US or CT or MRI).
REFERENCE
Sebastiano C, Zhao X, Deng FM, et al. Cystic lesions of the adrenal gland: Our experience over the last 20 years. Hum Pathol. 2013;44(9):1797–1803.
ADRENAL CYTOMEGALY
DESCRIPTION Found infrequently in children and adults and considered a benign mass lesion, the condition is seen often in Beckwith–Wiedemann syndrome. Other possible associations include hemolytic disease of the newborn, erythroblastosis fet alis, and congenital rubella. It is characterized by the presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. Adrenal cytomegaly rarely forms cysts. This condition is thought to be a degenerative process but not a malignancy, possibly caused by a physiologic condition that demands increased functional capacity and proliferation of adenocytes.
REFERENCE
Noguchi S, Masumoto K, Taguchi T, et al. Adrenal cytomegaly: Two cases detected by prenatal diagnosis. Asian J Surg. 2003;26(4):234–236.
ADRENAL HEMORRHAGE
DESCRIPTION Adrenal hemorrhage (AH) is a collection of blood producing a mass effect in 1 or both adrenal glands, with or without adrenal necrosis and insufficiency. It occurs in up to 30% of selected neonatal intensive care patients, 14–22% of newborns at autopsy, and up to 15% at autopsy of adult patients dying in shock. Signs and symptoms include fever, flank or abdominal pain, tachycardia, nausea, vomiting, respiratory distress, and weakness. Unilateral AH may be an incidental finding during imaging. AH may result from multiple mechanisms: Stress, sepsis (Waterhouse–Friderichsen syndrome), anticoagulation-related hypotension, vascular spasm, adrenal venous thrombosis, or heparin-associated thrombocytopenia.
Workup may show dropping hemoglobin and electrolyte abnormalities (hyponatremia, hyperkalemia in 56% of bilateral AH).
TREATMENT
Includes replacement of fluids, electrolytes, and blood if anemia is significant. Patients should be started on steroid replacement if adrenal insufficiency is suspected. Surgical exploration may be necessary for uncontrollable hemorrhage, uncertain diagnosis, or if abscess formation is suspected.
REFERENCE
Simon DR, Palese MA. Clinical update on the management of adrenal hemorrhage. Curr Urol Rep. 2009;10(1):78–83.
ADRENAL HYPOPLASIA
DESCRIPTION Reduced ACTH production can result in hypoplasia of the adrenal gland (secondary adrenal hypoplasia); this can occur as a result of lack of pituitary trophic signaling, such as in pituitary agenesis. Congenital adrenal hypoplasia (primary) is an inherited disorder, with several forms identified. The major form of adrenal hypoplasia is X-chromosome linked and traced to the DAX-1 (AHCH) gene. This gene is in close proximity to other genes encoding for glycerol kinase and Duchenne muscular dystrophy (both associated with adrenal hypoplasia). Hypogonadotrophic hypogonadism is also a common finding. It typically presents in the neonatal period or with adrenal crisis (dehydration, hyponatremia, hyperkalemia, hypotension, hypoglycemia). Disorders of the external genitalia may include micropenis, undescended testes, or hypospadias. It can be detected by biochemical testing (serum cortisol, corticotropin-releasing hormone (CRH) stimulation test, etc.). Antenatal maternal estriol screening can also detect adrenal hypoplasia. Treatment is replacement of adrenal hormones.
Diagnosis must be made early, or it can be fatal secondary to salt wasting.
REFERENCE
Ferraz-de-Souza B, Achermann JC. Disorders of adrenal development. Endocr Dev. 2008;13:19–32.
ADRENAL INCIDENTALOMAS
DESCRIPTION Incidentally discovered adrenal lesions – called “adrenal incidentalomas” – are by-products of increased availability and use of advanced imaging. Adrenal masses are found in approximately 4% of patients undergoing abdominal CT scans, and the prevalence increases with age. Most are nonfunctional, benign adenomas. It is important to consider 2 questions in the evaluation of an adrenal incidentaloma: Whether it is functioning and whether it is malignant. Differential diagnosis includes benign nonfunctioning adenoma; cyst/pseudocyst; hormonally active tumors such as pheochromocytoma, primary hyperaldosteronism, and Cushing disease (nodular hyperplasia); myelolipoma and malignancies including adrenocortical carcinoma; or metastasis from lungs, breast, colon, kidney, melanoma, or lymphoma. Incidentaloma <4 cm are likely benign. A 1-mg dexamethasone suppression test and measurement of plasma-free metanephrines is recommended for all patients with an adrenal incidentaloma, as well as a serum potassium and plasma aldosterone concentration-plasma rennin activity ratio for patients with hypertension. (See also Section I: “Adrenal Mass.”) (Image 
)
TREATMENT
• Surgical removal is indicated with hormonally active tumors, as well as any tumors >6 cm.
• Observation is warranted for any mass <4 cm and nonfunctioning. A repeat CT 6–12 mo after the initial study is reasonable for follow-up.
REFERENCE
Grumbach MM, Biller BM, Braunstein GD, et al. Management of the clinically inapparent adrenal mass (incidentaloma). Ann Intern Med. 2003;138(5):424–429.
ADRENAL METASTASES
DESCRIPTION The 4th most common site of metastatic tumor spread. Common metastases include breast (most common), lung, kidney, stomach, pancreas, and melanoma. (See also Section I: “Adrenal Mass.”)
REFERENCE
Gittens PR Jr, Solish AF, Trabulsi EJ. Surgical management of metastatic disease to the adrenal gland. Semin Oncol. 2008;35(2):172–176.
ADRENAL MYELOLIPOMA (ADRENAL MYOLIPOMA)
DESCRIPTION Referred to as myolipoma and myelolipoma in the literature, this rare, usually nonfunctioning lesions are composed of adipose and hematopoietic cells may represent extramedullary hematopoiesis. It is rarely metabolically active (Cushing or Conn syndrome) and usually asymptomatic, except when very large or if hemorrhage occurs. They mostly occur in the adrenal glands, but extra-adrenal myelolipomas have been reported (presacral, retroperitoneum). It can be diagnosed radiographically and is more typically incidentally discovered at imaging or autopsy. Ultrasound shows a highly echogenic mass. CT demonstrates focal densities near that of fat (Hounsfield units of –30 to –115). MRI T1-weighted images demonstrate high signal intensity, whereas T2-weighted images are moderately intense. The main diagnostic similarity is well-differentiated liposarcoma. (See also Section I: “Adrenal Mass.”)
TREATMENT
Excision if symptomatic or if diagnosis cannot be confirmed radiographically or on needle biopsy.
REFERENCE
Nabi J, Rafiq D, Authoy FN, et al. Incidental detection of adrenal myelolipoma: a case report and review of the literature. Case Rep Urol. 2013;2013:789481. doi: 10.1155/2013/789481.
ADRENAL ONCOCYTOMA
DESCRIPTION Oncocytic neoplasms of the adrenal gland, unlike that of the kidney, are rare with only 147 cases described. 80–90% of lesions are nonfunctional and only 10–20% of lesions show malignant elements. Typically occurs from 27–72 yr of age. More common in women (2.5:1 compared to men) and the left adrenal gland (3.5:1 compared to the right). Histologically, lesions are highly granular and eosinophilic due to an abundance of mitochondria. Grossly, they are large, well-rounded, and encapsulated with an average diameter of 8 cm (2–20 cm). When cross sectioned, they have a brown, yellow, or mahogany appearance. All tumors >6 cm should be excised. Percutaneous biopsy of an indeterminate mass has 73% sensitivity. Resection of the adrenal lesion can be performed either laparoscopically or using an open technique. If benign, the prognosis is excellent; if malignant, there is a 20–35% 5-yr survival rate. (See also Section I: “Adrenal Mass.”)
REFERENCE
Mearini L, Del Sordo R, Costantini E, et al. Adrenal oncocytic neoplasm: A systematic review. Urol Int. 2012;1–9.
ADRENALITIS
DESCRIPTION An inflammation of the adrenal gland that can lead to primary adrenal insufficiency (Addison disease), which accounts for 80% of cases. Tuberculosis is the 2nd leading cause, with the balance made up by fungal infections, hemorrhage, metastatic neoplasms, sarcoidosis, amyloidosis, and adrenal leukodystrophy. Autoimmune adrenalitis can be associated with thyroiditis, diabetes mellitus, pernicious anemia, vitiligo, hypoparathyroidism, and mucocutaneous candidiasis (autoimmune polyendocrine syndrome type 1, also known as candidiasis-hypoparathyroidism-Addison disease-syndrome), or with autoimmune polyendocrine syndrome type 2 (also known as Schmidt syndrome). HIV with opportunistic CMV adrenalitis accounts for an increasing number of cases. (See also Section I: “Adrenal insufficiency, acute (adrenal crisis) and “Addison Disease.”)
TREATMENT
• Replacement of adrenal and other hormones, as necessary
• Treatment of underlying cause
REFERENCE
Perry R, Kecha O, Paquette J, et al. Primary adrenal insufficiency in children: Twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab. 2005;90(6):3243.
ADRENOCORTICAL DISEASE, PRIMARY PIGMENTED NODULAR
DESCRIPTION Primary pigmented nodular adrenocortical disease (PPNAD) is a rare ACTH independent form of Cushing syndrome, accounting for <1% of Cushing syndrome patients. Hypercortisolism is resistant to a dexamethasone suppression test. Typically, bilateral adrenal glands are involved with gross appearance of multiple nodules of varying sizes and pigmented colors. Histologically, the nodules are circumscribed, unencapsulated, and comprised of polygonal cells with an eosinophilic appearance. 25% of patients manifest Carney complex, which includes spotty skin pigmentation, endocrine tumors, and neuroendocrine tumors. Treatment requires bilateral adrenalectomy as unilateral and partial adrenalectomy has resulted in recurrence. (See Section I: “Cushing Disease and Syndrome.”)
REFERENCE
Manipadam M, Abraham R, Sen S, et al. Primary pigmented nodular adrenocortical disease. J Indian Assoc Pediatr Surg. 2011;16(4):160–162.
ADRENOGENITAL SYNDROME
DESCRIPTION This is the most common cause of disorders of sexual development (DSD) (formerly ambiguous genitalia), caused by an inborn error of metabolism involving cortisol synthesis. At fault is a defect in any 1 of 5 enzymes involved in the cortisol biosynthetic pathway (21-hydroxylase, 11-hydroxylase, 3-hydroxysteroid dehydrogenase, 20.22-desmolase, or 17-hydroxylase), which may result in CAH. Usually presents with an autosomal recessive inheritance. (See also Section I: “Disorders of Sexual Development [DSD]”; Section II: “Congenital Adrenal Hyperplasia.”)
SYNONYMS
• CAH
• Female pseudohermaphrodite
• Male pseudohermaphrodite
COMPLICATIONS
• For untreated females:
– Premature pubic and axillary hair development
– Rapid somatic maturation, premature epiphyseal closure, short adult stature
– No breast development or menstruation until excessive androgen production is suppressed
• For untreated males:
– Sexual and somatic precocity within 1st 2 yr of life
– Premature epiphyseal closure, short adult stature
• Untreated males and females with salt-losing variant:
– Progressive weight loss, dehydration within 1st few weeks of life
TREATMENT
• Early diagnosis with ascertainment of correct sex and prevention of salt wasting and metabolic consequences
• Steroid replacement with cortisone, fluorohydrocortisone as needed
• Surgical genital reconstruction may be necessary early in life, based on specific findings
REFERENCES
Newman K, Randolph J, Anderson K. The surgical management of infants and children with ambiguous genitalia. Lessons learned from 25 years. Ann Surg. 1992;215:644–653.
New MI, Abraham M, Yuen T, et al. An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia. Semin Reprod Med. 2012;30(5):396–399.
ADRENOLEUKODYSTROPHY
DESCRIPTION Rare, X-linked recessive metabolic disorder occurring in boys, and characterized by adrenal atrophy and widespread, diffuse cerebral demyelination. It produces mental deterioration, corticospinal tract dysfunction, and cortical blindness. There is lab evidence of adrenal cortical dysfunction. 2 phenotypes, with onset in childhood or young adulthood, exhibit hypogonadism. Death inevitably occurs within months of onset. A defect is theorized in peroxisomes, which handle long-chain fatty acids. Lorenzo’s oil (a mixture of glyceryl trioleate and glyceryl trierucate oil) has been tried in this disease, with some delay in neurologic symptoms. Bone marrow transplantation is under study.
SYNONYM
Formerly Schilder disease
REFERENCE
Moser HW, Moser AB, Hollandsworth K, et al. “Lorenzo’s oil” therapy for X-linked adrenoleukodystrophy: Rationale and current assessment of efficacy. J Mol Neurosci. 2007;33(1):105–113.
AGING MALE SURVEY
DESCRIPTION The Aging Male Survey (AMS) is a questionnaire developed to detect hypogonadism in adult men. It has 3 domains: Psychological, Somato-vegetative, and sexual. The minimum and maximum scores are 5 and 25, respectively, for the Psychological and Sexual domains and 7 and 35 for the Somato-vegetative domain. The higher the score, the more severe the symptoms. The AMS has been shown to have a sensitivity (83%) and specificity (39%) similar to those of the shorter ADAM Survey. (See also Section I: “Andropause [Late Onset Male Hypogonadism]” and Testosterone, Decreased [Hypogonadism; Section II: “Androgen Deficiency in the Aging Male [ADAM] and ADAM Survey.”)
REFERENCE
Moore C, Huebler D, Zimmermann T, et al. The Aging Males Symptom Scale (AMS) as outcome measure for treatment of androgen deficiency. Eur Urol. 2004;46:80–87.
AL GHORAB CORPORAL SHUNT
DESCRIPTION A surgical treatment for the management of priapism refractory to penile irrigation. A small transverse incision is made on the dorsum of the glans. A section of septum between the glans spongiosa and the corpora cavernosa is removed to create a shunt. (See also Section I: “Priapism” and Section II “Al Ghorab Corporal Shunt With Burnett “Snake” Maneuver.)
REFERENCE
Benjelloun S, el Mrini M, Aboutaieb R, et al. [Priapism. Apropos of 10 cases]. J Urol (Paris). 1993;99(2):91–93.
AL GHORAB CORPORAL SHUNT WITH BURNETT “SNAKE” MANEUVER
DESCRIPTION A modification of the Al Ghorab distal corporal-glanular shunt for priapism. The Burnett “snake” modification involves passing a 7/8 Hegar dilator through the amputated distal tips of the corpora cavernosa bilaterally. The dilator is passed to the proximal limit of the corpora cavernosum laterally on each side to avoid urethral injury. Milking of ischemic blood and clot is performed until bright red blood is visualized. A study of 10 patients with a mean follow-up of 7 mo reported that 8 men had no recurrence of priapism. Of the 6 men who had normal erectile function preoperatively, 2 had partial erectile function postoperatively.
REFERENCE
Segal R, Readal N, Pierorazio PM, et al. Corporal Burnett “snake” surgical maneuver for the treatment of ischemic priapism: Long-term followup. J Urol. 2013;189:1025–1029.
ALAGILLE SYNDROME
DESCRIPTION An autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and kidneys. A characteristic facial appearance is also seen. Renal abnormalities are not specific but include dysplasia and renal failure. This autosomal dominant disorder is mapped to chromosome 20; it is treated by renal replacement therapy as needed.
SYNONYM
Alagille–Watson syndrome
REFERENCE
Hartley JL, Gissen P, Kelly DA. Alagille syndrome and other hereditary causes of cholestasis. Clin Liver Dis. 2013;17(2):279–300.
ALKALINE PHOSPHATASE, UROLOGIC CONSIDERATIONS
DESCRIPTION As an enzyme produced in many tissues, such as bone, liver, placenta, and intestine, alkaline phosphatase can monitor the progression of metastatic cancer to bone (such as prostate cancer). (Bone source can be distinguished from other sources by its heat lability compared with other forms.) This test has also been recommended by some authors as a useful tool for monitoring seminoma.
REFERENCE
Stoop H, Kirkels W, Dohle GR, et al. Diagnosis of testicular carcinoma in situ (intratubular and microinvasive) seminoma and embryonal carcinoma using direct enzymatic alkaline phosphatase reactivity on frozen histological sections. Histopathology. 2011;58(3):440–446.
ALKAPTONURIA
DESCRIPTION An inherited inborn error of metabolism of phenylalanine and tyrosine metabolism wherein homogentisic acid (HGA) accumulates in the body and is excreted in a large amount in the urine. If allowed to stand, the urine gradually turns dark (black urine disease). Alkali can accelerate this process. Ochronosis (deposition of a bluish-black pigment noted in the connective tissue) may lead to arthropathy. Of urologic interest, renal failure occurs, rarely, with long-standing disease. Even more rarely, HGA stones can occur. It is caused by a single gene defect, causing absence of HGA oxidase. It is treated by dietary restriction of phenylalanine and tyrosine and large doses of ascorbic acid; otherwise, treatment is symptomatic.
SYNONYM
Black urine disease
REFERENCE
Kazancioglu R, Taylan I, Aksak F, et al. Alkaptonuria and renal failure: a case report. J Nephrol. 2004;17(3):441–445.
ALLOPURINOL HYPERSENSITIVITY SYNDROME (AHS)
DESCRIPTION 2% of patients treated with allopurinol will develop minor adverse reactions, including drug eruption, pruritic maculopapular exanthema or minor vasculitis, which often disappear after cessation of treatment. In contrast, AHS is life threatening and includes at least 2 of the following major criteria:
• Deteriorating renal function
• Acute hepatocellular injury
• Cutaneous rash including erythema multiforme (EM), generalized maculopapular exanthema, generalized exfoliative dermatitis (GED), or Steven–Johnson syndrome/toxic epidermal necrolysis (SJS/TEN)
Diagnostic criteria may also include 1 of the above and at least 1 of the following minor criteria:
• Fever
• Eosinophilia
• Leukocytosis
TREATMENT
Febuxostat alternative for patients with AHS
REFERENCE
Calogiuri G, Nettis E, Di Leo E, et al. Allopurinol hypersensitivity reactions: Desensitization strategies and new therapeutic alternative molecules. Inflam Allergy-Drug Targets. 2013;12:19–28.
ALOPECIA GENITALIUM
DESCRIPTION A poorly understood and clinically insignificant condition marked by the loss and subsequent regrowth of pubic hair, possibly due to tight fitting undergarments.
REFERENCE
Pavona, NA. Alopecia genitalium: Personal observation. Tech Derm Urol. 1981;10:24.
α-(ALPHA) FETOPROTEIN
DESCRIPTION A single-chain glycoprotein (MW 70,000) that primarily aids in the management of testicular cancer. It is normally produced by the liver, yolk sac, and GI tract of the fetus; its half-life is 5 (3.5–6) days. Serum α-fetoprotein (AFP) levels are normally elevated in the 1st 8 mo of life. The normal adult level is <8 ng/mL; this can be elevated in 38% of cases of embryonal cell carcinoma, 64% of teratocarcinoma, and in yolk sac tumors. Other reasons for elevation include neuroblastoma, hepatoblastoma (hepatoma), hepatocellular, neural tube defects, fet al death, ataxia-telangiectasia, and some cases of benign hepatic disease.
REFERENCE
Ritchey ML, Andrassy RJ, Kelalis PP. Pediatric urologic oncology. In: Gillenwater JY, Grayhack JT, Howards SS, et al., eds. Adult and Pediatric Urology. 3rd ed. St Louis, MO: Mosby; 1996.
ALPORT DISEASE/SYNDROME
DESCRIPTION Alport disease/syndrome consists of hereditary nephritis, high-frequency neural hearing loss, and ocular abnormalities. It can present as hematuria, proteinuria, or uremia. Family history is crucial in diagnosis. The nephritis is progressive, usually resulting in renal failure by the 3rd decade. Males are more severely affected. It is caused by a genetic mutation on a single locus on the X chromosome, with altered type IV collagen production. Treat with renal replacement therapy, as needed.
REFERENCE
Gregory MC, Terreros DA, Barker DF, et al. Alport syndrome—clinical phenotypes, incidence, and pathology. Contrib Nephrol. 1996;117:1–28.
ALSTRÖM–EDWARDS SYNDROME
DESCRIPTION A progressive autosomal recessive genetic disorder affecting multiple organ systems. It may be detected at birth or in early childhood. Clinically, patients with Alström syndrome develop cone–rod dystrophy leading to eventual blindness, have sensorineural deafness, and normal intelligence. Patients develop obesity, endocrine disturbances such as type 2 diabetes mellitus, dilated cardiomyopathy, and progressive renal and hepatic failure. Alström syndrome is caused by specific mutations in the ALMS1 gene, located at chromosome 2p13. No specific treatment is available for infertility; renal replacement therapy is indicated as needed.
SYNONYM
Alström syndrome
REFERENCE
Mendioroz J, Bermejo E, Marshall JD, et al. Alström syndrome: Clinical and genetic features, and a diagnostic guide to foresee complications. Med Clin (Barc). 2008;131(19):741–746.
ALZHEIMER DISEASE, UROLOGIC CONSIDERATIONS
DESCRIPTION Alzheimer disease is the principal cause of dementia in the elderly patient population. The urologic manifestations include urinary incontinence, overactive bladder, and erectile dysfunction (ED). Patients may be difficult to treat due to limited cooperation with the treatment plan; toileting schedules can help with early incontinence episodes. Often considered a cuae of “functional” urinary and fecal incontinence. Current theories regarding the etiology of Alzheimer disease revolve around cortical cholinergic loss. This may also make the treatment of urologic manifestations even more difficult by limiting the use of anticholinergic agents. Rule out other correctable causes before ascribing urinary tract problems to this disease specifically. (See Section I: “Incontinence, Urinary, Adult Male”; Section I: “Incontinence, Urinary, Adult Female.”)
REFERENCE
Resnick NM, Yalla SV, Laurino E. The pathophysiology and clinical correlates of established urinary incontinence in frail elderly. N Engl J Med. 1989;320:1–7.
AMBIGUOUS GENITALIA
DESCRIPTION DSD (Disorders of sexual development) refers to a child born with a congenital discrepancy between external genitalia, gonadal, and chromosomal sex. In 2006, consensus conference stated that the potentially pejorative terms “pseudohermaphrodite,” “hermaphrodite,” and “intersex” be replaced by the more appropriate diagnostic category “DSD.” It is recognized that some DSDs present with abnormalities of the external genitalia (ambiguous genitalia). These abnormalities that prompt evaluation occur in approximately 1 in 4,500 live births. These findings may include may include micropenis, clitoromegaly, bilateral cryptorchidism, perineal hypospadias with bifid scrotum, posterior labial fusion, phenotypic female appearance with a palpable gonad (with or without inguinal hernia) hypospadias and unilateral nonpalpable gonad as a few examples. (See also Section I: “Disorders of Sexual Development [DSD]” and Section II: “Androgen Insensitivity Syndrome [AIS]”; or “Androgen Resistance Syndrome, Complete [CAIS] and Partial [PAIS].”)
REFERENCES
Houk CP, Levitsky L. Evaluation of the infant with ambiguous genitalia. In: UpToDate.com, Accessed March 9, 2014.
Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex; Pediatrics. 2006;118(2):e488.
AMERICAN ASSOCIATION FOR THE SURGERY OF TRAUMA (AAST) ORGAN SEVERITY SCALES: GENITOURINARY INJURIES
DESCRIPTION Numerous classifications of traumatic injuries exist, but the most widely used and accepted classification was developed by the American Association for the Surgery of Trauma’s Organ Injury Scaling Committee. (See also Section I: “Bladder Trauma; Penis, Trauma; Renal Trauma, adult; Ureter, Trauma; Urethra, Trauma.”)
REFERENCE
Santucci RA, et al. Validation of the American Association for the Surgery of Trauma organ injury severity scale for the kidney. J Trauma. 2001;50(2):195–200.
AMINOACIDURIA
DESCRIPTION Excretion of an overabundance of amino acids in the urine, most often due to an inborn error of metabolism. Aminoaciduria is found in association with renal tubular acidosis, Fanconi syndrome, and other primary renal tubular disturbances. It may also occur secondary to other diseases that affect the kidney, such as diabetes mellitus (DM) and diabetes insipidus (DI).
REFERENCE
Neithercut WD, Spooner RJ, Hendry A, et al. Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following long term lithium administration. Postgrad Med J.1990;66(776):479–482.
AMMONIUM CHLORIDE LOADING TEST
DESCRIPTION An acid loading test to rule out distal renal tubular acidosis. Performed by giving 0.1 g/kg ammonium chloride oral solution over 45 min after a 6-hr fast. 100 mL of water are given every hour during the test. Urine pH is measured hourly for 4 hr. Serum bicarbonate values are taken at hours 2 and 4 to ensure adequate acidification (<16 mmol/L). The normal result is urine pH <5.4; distal RTA exists if pH >5.4. (See also Section II: “Renal Tubular Acidosis.”)
REFERENCE
Weger W, Kotanko P, Weger M, et al. Prevalence and characterization of renal tubular acidosis in patients with osteopenia and osteoporosis and in nonporofic controls. Neprhol Dial Transplant.2000;15(7):975–980.
AMMONIUM URATE UROLITHIASIS
DESCRIPTION Extremely rare form of stone disease (<0.5%), endemic in countries with poor nutrition and in patients with Crohn disease. In contrast to uric acid stones, these grow only in urine with pH <6.5. Caused mostly by infection, usually mixed with struvite stones.
TREATMENT
• Clear infection and increasing urine output to >2.5 L/d.
• Chemolitholysis is not possible, and surgical intervention may be necessary. Encourage a balanced diet.
REFERENCE
Hossain RZ, Ogawa Y, Hokama S, et al. Urolithiasis in Okinawa, Japan: A relatively high prevalence of uric acid stones. Int J Urology. 2003;10(8):411–415.
AMSTERDAM AND BETHESDA CRITERIA FOR LYNCH SYNDROME
DESCRIPTION Criteria have been developed to aid in the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Lynch syndrome caused by a germline mutation in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk of colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract (upper tract urothelial carcinoma), brain, and skin. Originally developed in 1991, they have been modified several times with the most current version referred to as Bethesda Criteria.
• Amsterdam II Criteria (Revised International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer [HNPCC] Criteria 1998) 3 or more relatives with HNPCC-associated cancer (colorectal cancer or cancer of the endometrium, small bowel, ureter, or renal pelvis) plus all of the following:
– 1 affected patient should be a 1st-degree relative of the other 2;
– 2 or more successive generations should be affected;
– Cancer in 1 or more affected relatives should be diagnosed before the age of 50 yr;
– Familial adenomatous polyposis should be excluded in any cases of colorectal cancer;
– Tumors should be verified by pathologic exam.
• Revised Bethesda Criteria (2003) Just 1 these criteria need to be met:
– Diagnosed with colorectal cancer before the age of 50 yr;
– Synchronous or metachronous colorectal or other HNPCC-related tumors (which include stomach, bladder, ureter, renal pelvis, biliary tract, brain [glioblastoma], sebaceous gland adenomas, keratoacanthomas and carcinoma of the small bowel), regardless of age;
– Colorectal cancer with a high-microsatellite instability morphology that was diagnosed before the age of 60 yr;
– Colorectal cancer with 1 or more 1st-degree relatives with colorectal cancer or other HNPCC-related tumors. 1 of the cancers must have been diagnosed before the age of 50 yr (this includes adenoma, which must have been diagnosed before the age of 40 yr);
– Colorectal cancer with 2 or more relatives with colorectal cancer or other HNPCC-related tumors, regardless of age
REFERENCES
Hubosky SG, Boman BM, Charles S, et al. Ureteroscopic management of upper tract urothelial carcinoma (UTUC) in patients with Lynch Syndrome (hereditary nonpolyposis colorectal cancer syndrome). BJU Int. 2013;112(6):813–819.
Piñol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA. 2005;293(16):1986–1994.
ANAL SPHINCTER TONE AND SENSATION, UROLOGIC CONSIDERATIONS
DESCRIPTION Anal sphincter tone is a vital part of the GU evaluation, especially in a person with new-onset urinary incontinence. Normal anal sphincter tone is a function of somatic fibers traveling over S2–S4 in the pudendal nerve. A hypoactive sphincter suggests a lower motor neuron lesion, whereas a hyperactive sphincter may be an upper motor neuron lesion. The loss of voluntary contraction of the sphincter suggests interruption of centrally directed fibers somewhere between the motor strip of frontal cortex and the pudendal nerve. The bulbocavernosus reflex (BCR), which is widely used in evaluating urinary incontinence and ED, requires anal sphincter contraction in response to squeezing the glans of penis.
REFERENCE
Magee MC. Basic Science for the Practicing Urologist. New York, NY: Cambridge University Press, 1983.
ANDERSON-HYNES PYELOPLASTY
DESCRIPTION Used to treat ureteropelvic junction (UPJ) obstruction. The UPJ is excised, and excess renal pelvis is removed. The widely spatulated ureter is reanastomosed to the renal pelvis with interrupted chromic sutures, and the excess renal pelvis is closed with simple or running suture. After nephrostomy, a ureteral stent is placed. (See also Section I: “Ureteropelvic Junction Obstruction.”)
REFERENCE
Szydelko T, Kasprzak J, Lewandowski J, et al. Dismembered laparoscopic Anderson-Hynes pyeloplasty versus non-dismembered laparoscopic Y-V pyeloplasty in the treatment of patients with primary ureteropelvic junction obstruction: A prospective study. J Endourol. 2012;26(9):1165–1170.
ANDREWS PROCEDURE (HYDROCELE)
DESCRIPTION A technique described in 1907 where the hydrocele sac at the superior portion of the tunica vaginalis is incised 2–3 cm. This step is followed by eversion of the edges of the tunica vaginalis, which is wrapped around the cord structure.
SYNONYM
Bottle Operation
REFERENCE
Andrews EW. The “Bottle Operation” method for radical cure of hydrocele. Annals of Surgery. 1907;46(6):915–918.
ANDROGEN DEFICIENCY IN THE AGING MALE (ADAM) AND ADAM QUESTIONNAIRE
DESCRIPTION Previously referred to as andropause, this has more recently been described as ADAM. The onset of ADAM is unpredictable, and its manifestations are subtle and variable. It is associated with a decrease in testosterone, but also with decreased growth hormone, melatonin, and dehydroepiandrosterone (DHEA). Clinical manifestations include fatigue, depression, decreased libido, and erectile dysfunction (ED), as well as changes in cognition and mood. The ADAM questionnaire is a screening tool to detect late-onset hypogonadism, with a sensitivity and specificity of 88% and 60%, respectively, compared with serum-bioavailable testosterone levels. A positive answer represents yes to questions 1 or 7 or to any 3 other questions.
REFERENCES
Morales A, Heaton JP, Carson CC 3rd. Andropause: A misnomer for a true clinical entity. J Urol. 2000;163(3):705–712.
Morley JE, Charlton E, Patrick P, et al. Validation of a screening questionnaire for androgen deficiency in aging males. Metabolism. 2000;49:1239–1242.
ANDROGEN DEPRIVATION SYNDROME (ADS)/METABOLIC SYNDROME
DESCRIPTION Long-term androgen deprivation therapy (ADT), for the treatment of prostate cancer, results in hypogonadism and increased risk of type 2 diabetes mellitus. Furthermore, death from cardiovascular disease (CVD) is the most common cause of prostate cancer–related death in these men. ADS is a spectrum of adverse effects: Hot flushes, impotence, loss of libido, emotional lability, anemia, hyperglycemia, increased triglycerides and cholesterol, muscle atrophy, decreased muscle strength, testicular atrophy, osteoporosis, depression, anxiety, malaise, fatigue, and memory difficulties. Metabolic syndrome defined by the NIH Adult Treatment Panel III criteria is also part of this spectrum and may include abdominal obesity, hyperglycemia, hypertriglyceridemia, elevated HDL cholesterol, and hypertension. Treatment of the metabolic syndrome includes:
• Management of underlying causes (overweight/obesity and physical inactivity): Weight management, increased physical activity
• Treat lipid and nonlipid risk factors if they persist despite these lifestyle therapies: Treat hypertension; use aspirin for coronary heart disease (CHD) patients to reduce prothrombotic state; treat elevated triglycerides and/or low HDL; monitor blood sugars.
REFERENCES
Braga-Basaria M, Dobs AS, Muller DC, et al. Metabolic syndrome in men with prostate cancer undergoing long-term androgen-deprivation therapy. J Clin Oncol. 2006;24(24):3979–3983.
National Cholesterol Education Program. Available at http://www.nhlbi.nih.gov/guidelines/cholesterol/atglance.htm. (Accessed August 28, 2014)
ANDROGEN INSENSITIVITY SYNDROME (AIS; OR ANDROGEN RESISTANCE SYNDROME), COMPLETE (CAIS) AND PARTIAL (PAIS)
DESCRIPTION Androgen insensitivity is a disorder of androgen action and a common form of 46,XY DSD. Mutations in the androgen receptor lead to variable defects in virilization or infertility in 46,XY males with testes and normal testosterone formation. Clinical presentation ranges from phenotypic women with decreased or absent axillary and pubic hair (complete androgen insensitivity syndrome [CAIS]) through individuals with partial androgen insensitivity (PAIS), including women with partial virilization, to phenotypic men with variable defects in virilization to men with isolated infertility An X-linked recessive disorder with a prevalence range from 1 in 20,400 genetic males to 1 in 99,000 genetic males. The typical mode of presentation is in an adolescent female who has breast development with a pubertal growth spurt but has not had her menarche with little or no axillary and pubic hair. Insensitivity can be complete insensitivity or partial. (See also Section I: “Disorders of Sexual Development [DSD]” and Section II: “Ambiguous Genitalia.”)
Management of complete (severe) androgen insensitivity relates primarily to the optimal timing of gonadectomy. Because the testes produce estradiol, which results in appropriate changes for the female phenotype, it is considered by many preferable to leave the testes in situ until puberty is complete. In partial androgen insensitivity, the external genitalia may be ambiguous at birth, but the prototypic phenotype is characterized by perineoscrotal hypospadias, micropenis, and a bifid scrotum. The testes may also be undescended.
REFERENCE
Hughes IA, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab. 2006;20(4):577–598.
ANDROGEN/ANABOLIC STEROID ABUSE
DESCRIPTION Androgens are steroid hormones that include testosterone and its derivatives, including androstenedione, DHT, and dromostanolone. In the medical realm, androgens at physiologic doses treat androgen deficiency due to hypothalamus, pituitary, or testis disorder of genetic or acquired etiology. The use of androgens at supra-physiologic doses greatly enhances muscle strength, size, and performance, thus promoting its abuse most notably in power sports and body building. While banned by all major sports organizations, androgen abuse is rampant and has been linked to several high-profile athletes. Androgen abuse is a frequent cause of male infertility by suppression of Leydig cell production of testosterone, which results in deficient spermatogenesis. Abnormalities in sperm motility and morphology are commonly seen, and usually recover spontaneously within 4 mo after cessation of abuse.
REFERENCE
Dohle GR, Smit M, Weber RF. Androgens and male fertility. World J Urol. 2003;21(5):341–345.
ANGIOKERATOMA OF FORDYCE (PENILE AND SCROTAL ANGIOKERATOMAS)
DESCRIPTION Vascular malformation of subepidermal blood vessels with an overlying epidermal proliferative reaction. Capillary ectasia is present in the papillary dermis. Typically, numerous dark red to blue dome–shaped papules are linearly arranged on the scrotum and, less commonly, on the penis. In women, 1 larger vulvar papule is typical. Usually asymptomatic, but can cause annoying bleeding either spontaneously or with scratching or intercourse. The etiology is not known but possibly related to increased regional venous pressure; some believe an association with varicocele exists. Typically seen in older patients; these are distinct from congenital scrotal hemangiomas (see Section II: “Scrotum, Hemangioma.”)
TREATMENT
Electrosurgery and lasers are effective, but rarely necessary.
REFERENCE
Schiller PI, Itin PH. Angiokeratomas: An update. Dermatology. 1996;193(4):275–282.
ANGIOLYMPHOID HYPERPLASIA, PENILE
DESCRIPTION A subtype of a broad class of histiocytoid hemangiomas in which 4 features are found: (1) Vacuolated histiocytoid cells, (2) tumor vessels that are thick-walled or capillaries consisting only of histiocytoid endothelial cells, (3) interstitial eosinophils, and (4) lymphoid infiltrates. These are usually confined to the skin of 1 area of the body.
SYNONYMS
• Pseudopyogenic (or atypical pyogenic) granuloma
• Inflammatory angiomatous nodule
• Subcutaneous angioblastic hyperplasia with eosinophilia
• Epithelioid hemangioma
• Intravenous atypical vascular proliferation
TREATMENT
Local surgical excision or laser (CO2) ablation.
REFERENCE
Allen PW, Ramakrishna B, MacCormac LB. The histiocytoid hemangiomas and other controversies. Pathol Ann. 1992;27(Pt 2):51–87.
ANGIOMYXOMA, PERINEAL
DESCRIPTION Benign lesion of the pelvic soft tissue, but may very rarely metastasize. Characterized by slow, infiltrative growth. May present as mass in the pelvis. Histologically, demonstrates wavy collagen fibrils related to the myxoid change. Multiple prominent blood vessels are also seen. It occurs mainly in females and can be quite locally aggressive, with frequent local recurrence. Treatment is through wide local excision with close postoperative monitoring.
REFERENCE
Hong RD, Outwater E, Gomella LG. Aggressive angiomyxoma of the perineum in a man. J Urol. 1997;157(3):959–960.
ANGIOSARCOMA, GENITOURINARY
DESCRIPTION A very rare malignancy that grossly appears as a well-circumscribed mass or diffusely fungating tumor that may involve any organ. Microscopically, angiosarcoma shows numerous vascular channels. It stains positively for factor VIII immunohistochemically. These sarcomas can be widely metastatic and have persistent local recurrence. Bladder angiosarcoma has been reported postradiation for treatment of other malignancies; chronic lymphedema, foreign bodies, and other toxins have been implicated.
TREATMENT
• Radical resection of affected area (penectomy, cystectomy with diversion)
• Lymph node dissection for presence of lymphadenopathy
• Adjuvant radiation may be useful; chemotherapy for adjuvant or metastatic disease is not usually effective
REFERENCE
Wu X, Chen Z, Ji H, et al. Angiosarcoma of the penis: A case report and literature review. Int Urol Nephrol. 2012;44(5):1341–1343.
ANOGENITAL INTRAEPITHELIAL NEOPLASIA
DESCRIPTION Genital warts are caused by human papilloma virus (HPV), a DNA-containing virus that is spread by direct skin-to-skin contact; 100 different types of HPV exist, and over 30 types can infect the genital area. Risk factors for acquiring HPV include multiple sexual partners, early age at onset of sexual intercourse, and having a sexual partner with HPV. Most infections are subclinical and asymptomatic. Anogenital HPV infection is common in HIV-infected men who have sex with men. These patients have a strongly increased risk of HPV-induced anal cancer and its precursor lesion, anal intraepithelial neoplasia (AIN), and a moderately increased risk for penile cancer. Many of these men also have penile intraepithelial neoplasia (PIN), a penile cancer risk factor. Some authors recommend that all HIV positive men who have sex with men be screened for PIN. (See also Section I: “HIV/AIDS, Urologic Considerations” and Section II “HPV (Human Papilloma Virus), Urologic Considerations.”)
REFERENCE
Kreuter A, Brockmeyer NH, Weissenborn SJ, et al. Penile intraepithelial neoplasia is frequent in HIV-positive men with anal dysplasia. J Invest Derm. 2008;128, 2316–2324.
ANORGASMIA, FEMALE
DESCRIPTION Part of female orgasmic disorder, anorgasmia describes the absence of orgasm following a normal sexual excitement phase. A DSM-IV diagnosis, patients can have marked distress and difficulty in interpersonal situations. Treatment includes behavioral therapy and reduction in anxiety, such as directed masturbation, desensitization, sex education, education regarding communication skills, and Kegel exercises. Pharmaceutical therapies have not currently proven uniformly beneficial (See Section I: “Dyspareunia, Female” and “Sexual Dysfunction, Female.”)
REFERENCE
Meston C, Hull E, Levin RJ, et al. Disorders of orgasm in women. J Sexual Med. 2004;1:66–68.
ANTERIOR URETHRAL VALVES
DESCRIPTION Much less common than posterior urethral valves, this condition is characterized by obstruction of the anterior urethra, usually associated with a urethral diverticulum. It is caused by a diverticulum acting as valves, although cusps without diverticulum have been reported. It usually presents with voiding symptoms or bulging diverticulum on the ventral shaft with voiding. Diagnosed by VCUG and renal ultrasound. Retrograde urethrogram may miss the valve. It may be associated with reflux, but less so than with PUV. Renal deterioration is less common than with PUV.
TREATMENT
• Foley catheter if azotemia occurs
• Endoscopic valve fulguration or single-stage urethroplasty if urethra is adequate
• Staged urethroplasty for large diverticulum
• Vesicostomy for reflux or persistent azotemia
REFERENCE
Routh JC, McGee SM, Ashley RA, et al. Predicting renal outcomes in children with anterior urethral valves: A systematic review. J Urol. 2010;184(4 Suppl):1615–1619.
ANTIANDROGEN WITHDRAWAL SYNDROME (FLUTAMIDE WITHDRAWAL SYNDROME)
DESCRIPTION A decrease of PSA levels occurs in 15–40% of patients upon withdrawal of nonsteroidal antiandrogen in those treated for advanced prostate cancer with total androgen blockade that is rarely durable. This is possibly caused by a mutation in the androgen receptor, which then acts to stimulate growth of tumor when bound by the agent. Initially reported for flutamide, but bicalutamide and nilutamide have also shown this effect. This effect should be sought before adding other more cytotoxic agents to patients with castrate resistant prostate cancer, and could partially explain the activity of some salvage therapies.
REFERENCE
Miyamoto H, Rahman MM, Chang C. Molecular basis for the anti-androgen withdrawal syndrome. J Cell Biochem. 2004;91(1):3–12.
ANTISPERM ANTIBODIES
DESCRIPTION Antisperm antibodies develop when a disruption occurs in the blood–testis barrier; they may be a cause of infertility. Causes can include ductal obstruction (ie, vasectomy), infection, cryptorchidism, and varicocele, but are often idiopathic. Serum antisperm antibody levels are not as useful as antibodies in the semen, which can be measured by immunobead testing. The higher the percentage of sperm binding to the bead, the lower the probability of pregnancy. Scoring varies by lab, but normal is generally considered to be <10% of sample binding to the bead. Condoms, antibiotics, steroids, and sperm washing have all been utilized, with variable results. Presently, assisted reproductive techniques (ARTs) such as in vitro insemination are most effective. (See also Section I: “Infertility”; Section II: “Semen Analysis, Abnormal Findings and Terminology”; “Semen Analysis, Technique and Normal Values.”)
REFERENCE
Zini A, Fahmy N, Belzile E, et al. Antisperm antibodies are not associated with pregnancy rates after IVF and ICSI: Systematic review and meta-analysis. Hum Reprod. 2011;26(6):1288–1295.
APHTHOUS ULCER, EXTERNAL GENITALIA
DESCRIPTION Aphthae are localized, painful, shallow, round to oval ulcers often covered by a gray fibromembranous slough and surrounded by an erythematous halo. Complex aphthosis involves almost constant, multiple, oral or oral and genital aphthae. Those involving both oral and genital aphthae are termed bipolar aphthosis (BA) of Neumann. Most specialists consider bipolar aphthosis to be a forme fruste of Behçet disease (BD). The prevalence of genital aphthae in BD varies from 60–90% in various reports. Genital aphthae are most commonly seen in male patients on the scrotum and in female patients on the vulva. In females, genital aphthae tend to be larger and deeper, sometimes even leading to perforations. Genital aphthae, especially those that are larger, may be confused with STDs; a common misdiagnosis is genital herpes or Donovanosis. (See also Section I: “Penis, Cutaneous Lesion” and Section II: “Behçet Disease” and “Genital Ulcers.”)
REFERENCE
Somesh G, Ajith C, Malhotra S, et al. Bipolar aphthosis presenting as mutilating genital ulcers in women. Indian J Dermatol Venereol Leprol. 2004;70(6):357–360.
APPENDIX TESTIS AND APPENDIX EPIDIDYMIS, TORSION
DESCRIPTION The appendix testis, historically known as the hydatid of Morgani, is a vestigial remnant of the müllerian duct in the paratesticular region. It is present in >90% of testes at autopsy. It is usually located on the superior aspect of the testis and attached to the tunica vaginalis. Grossly it appears polypoid or a sessile nodule, typically 2–4 mm in length. It can undergo torsion and cause acute scrotum. In children, this torsion is the most common cause of an acute scrotum. This condition is characterized by the “blue dot sign.” It is difficult to clinically distinguish between testicular torsion and torsion of the appendix testis or epididymitis. Diagnosis is made by scrotal ultrasound.
The appendix epididymis is also referred to as the “vestigial caudal mesonephric collecting tubule.” It is present in 35% of autopsy cases and on ultrasound is seen in 18% of cases. Grossly it appears as a pedunculated spherical or elongated structure arising from the antero-superior head of the epididymis. It may also undergo torsion and cause an acute scrotum that must be differentiated from testicular torsion.
Torsion of these testicular and epididymal appendages are benign conditions but must be differentiated form testicular torsion which can lead to ischemia and infarction of the testicle if not recognized and treated promptly. Epididymitis is very rare in this age group and the urinalysis is negative. Most cases occur in children between the ages of 7 and 14 yr. Pain onset is usually acute and unlike cases of testicular torsion, nausea, and vomiting may not be present.
3 elements serve to predict testicular torsion: Pain <6 hr, absent cremasteric reflex, and diffuse testicular tenderness. In the absence of any of these elements, none of the subjects had testicular torsion; when all 3 elements present, 87% had testicular torsion. A paratesticular nodule at the superior aspect of the testicle, with or without the characteristic “blue-dot appearance” seen with the scrotal skin pulled over the lesion, is pathognomonic. The blue-dot is present in only 21% of cases and may not be easily seen in children with pigmented skin.
Color Doppler transscrotal ultrasound is the imaging modality of choice for evaluation of the acute scrotum. With torsion of an appendage, testicular blood flow is usually normal. Ultrasonography can distinguish torsion of a testicle and torsion of an appendix testis or appendix epididymis. Nuclear scanning has limited utility.
If the likelihood of a torsed appendage is high, it can be managed conservatively. If these is any doubt as to the diagnosis surgical exploration is indicated to limit the risk of testicular loss with a missed testicular torsion. The necrotic tissue of the testicular or epididymal appendix causes no significant damage to the surrounding structures other than the inflammation and discomfort. Most cases are managed conservatively. Scrotal discomfort gradually resolves over the next 1–2 wk. Limit activity initially and the use of scrotal support and ice can help initially. Nonsteroidal anti-inflammatory medications usually provide symptomatic relief. (See also Section I: “Torsion, Testis or Testicular/Epididymal Appendages” and “Torsion, Testis or Testicular/Epididymal Appendages Images.”)
REFERENCES
Bostwick DG. In: Bostwick DG, Cheng L, eds. Spermatic cord and testicular adnexae in Urologic Surgical Pathology, 2nd ed. Philadelphia, PA: Mosby Elsevier; 2008; Chapter 14.
Karmazyn B, Steinberg R, Kornreich L, et al. Clinical and sonographic criteria of acute scrotum in children: A retrospective study of 172 boys. Pediatr Radiol. 2005;35(3):302–310.
ARISTOLOCHIC ACID (FANG CHI)
DESCRIPTION Aristolochic acid is a toxin found in plants of the genus Aristolochia, a vine widely known as birthwort and contained in herbal remedies used to treat a variety of ailments such as arthritis, gout, and inflammation. Certain Chinese herbal medicines contain this toxin. In 2001, the US Food and Drug Administration warned consumers of the dangers of aristolochic acid-containing herbs, and regulations established in the Europe Union in 2004 effectively banned the substance. However, Internet sites still sell the processed drug or source plant, which remains legal in China and several other countries. Associated with end-stage renal disease (ESRD) and upper tract urothelial carcinoma. Several studies have revealed the carcinogenic potential of aristolochic acid contained in Aristolochia fangchiand Aristolochia clematis (plants endemic to the Balkans). Balkan Endemic Nephropathy has been linked to consumption of bread grain with seeds from the weed Aristolochia clematitis. Moreover, the vine has been found to be an environmental carcinogen through the contamination of food supplies of farming villages in the Balkans, where Aristolochia grows wildly in the local wheat fields. A meta-analysis of eight studies reported a pooled odds ratio of 5.97 (95% CI: 2.78–12.84) for aristolochic acid related UTUC. The lower dose confidence limit for aristolochic acid related ESRD is 0.42 g cumulative aristolochic acid exposure. The plant contains a set of highly toxic nitrophenolate derivatives that exhibit a powerful mutagenic action. The aristolochic acid derivative d-aristolactam causes a specific mutation in the p53 gene at codon 139. This mutation is very rare in the nonexposed population and is predominant in patients with nephropathy due to Chinese herbs or Balkan endemic nephropathy who present with upper tract urothelial carcinoma. Genome-wide sequencing has allowed a link between aristolochic acid exposure directly to an individual getting cancer. (See also Section II: “Balkan Nephropathy.”)
REFERENCES
Chen CH, Dickman KG, Moriya M, et al. Aristolochic acid-associated urothelial cancer in Taiwan. Proc Natl Acad Sci USA. 2012;109(21):8241–8246.
Wu F, Wang T. Risk assessment of upper tract urothelial carcinoma related to aristolochic acid. Cancer Epidemiol Biomarkers Prev. 2013:25(5):812–820.
ARTERIOVENOUS FISTULA (AVF), RENAL (OR ARTERIOVENOUS MALFORMATION [AVM])
DESCRIPTION Renal AVF or AVM are uncommon lesions. They can be congenital, acquired, or idiopathic. Most (70%) are iatrogenic and occur as a result of renal biopsy, blunt or penetrating trauma, inflammation, malignancy, or renal surgery. Congenital fistulas account for ∼20% and are often found under the mucosa, accounting for the bleeding presentation. The right kidney is more often involved than the left, and women twice as often as men. May rarely present as a renal mass. The peak incidence occurs in patients 30–40 yo. Acquired or idiopathic lesions are usually aneurysmal. Congenital renal AVF frequently causes hematuria. Symptoms can include abdominal bruit, hypertension, headache, and palpitation. Indications for treatment include progressive increase in the size of the fistula, recurrent or persistent hematuria, and hemodynamic effects (cardiac decompensation, hypertension, high-output heart failure). Arteriography is the gold standard for evaluating renal AVF (demonstrating simultaneous visualization of major arteries and veins). Doppler US is a good screening tool. CT or MRI angiography can usually demonstrate the lesion adequately. Endovascular techniques are used even for giant aneurysms with AVFs. For small renal AVFs, macroparticules or methyl cyanoacrylate glue should be used. For larger fistulas, coils or detachable balloons are used. With any concerns for the possibility of systemic and pulmonary embolism, high-flow AVF should be managed by open resection or ligation.
REFERENCE
Dönmez FY, Coşkun M, Uyuşur A, et al. Noninvasive imaging findings of idiopathic renal arteriovenous fistula. Diagn Interv Radiol. 2008;14:103–105.
ARTIFICIAL INSEMINATION (AI)
DESCRIPTION The process by which semen is introduced into the female reproductive tract by artificial means, for the purpose of improving the chance for conception in fertile couples with patent tubes. Variations include controlled ovarian hyperstimulation, intrauterine insemination (IUI), direct interperitoneal insemination (DIPI), a combination of IUI and DIPI, fallopian tube sperminfusion (FSI), and peritoneal oocyte and sperm transfer. Other related means of improving fertility include in vitro fertilizations (IVFs), such as zygote intrafallopian transfer (ZIFT) and tubal embryo stage transfer (TEST) techniques.
REFERENCE
Veltman-Verhulst SM, Cohlen BJ, Hughes E, et al. Intra-uterine insemination for unexplained subfertility. Cochrane Database Syst Rev. 2012;9.
ASK-UPMARK KIDNEY
DESCRIPTION These are small kidneys with areas of normal architecture separated by grooves overlying dilated calices without pyramids. The parenchyma of the grooved areas contain thyroid-like tubules and lack glomeruli. Cause is unknown, but vesicoureteral reflux and ascending infection have been implicated. They are typically unilateral and associated with vesicoureteral reflux, and commonly present as malignant hypertension, but cases of nonmalignant hypertension and recurrent UTIs occur. Nephrectomy of the affected side for refractory hypertension is the treatment.
SYNONYM
Segmental renal hypoplasia
REFERENCE
Zezulka AV, Arkell DG, Beevers DG, et al. The association of hypertension, the Ask-Upmark kidney and other congenital abnormalities. J Urol. 1986;135(5):1000–1001.
ASOPA HYPOSPADIAS REPAIR
DESCRIPTION The dorsal preputial foreskin’s inner rectangular graft is tubularized to form the neourethra, and the outer opposing skin, which shares the same blood supply, serves as the outer penile shaft skin cover.
REFERENCE
Wacksman J. Use of the Hodgson XX (modified Asopa) procedure to correct hypospadias with chordee: Surgical technique and results. J Urol. 1986;136(6):1264–1265.
ASPERGILLOSIS, GENITOURINARY
DESCRIPTION Only Candida infections are more common opportunistic infections in the urologic population than aspergillosis. It affects patients with diabetes and malignancy, and immunosuppressed patients (HIV, renal transplant). It can cause renal parenchymal disease or obstructive uropathy. The prostate has been a rare site of infection. Renal aspergilloma or pseudotumor has been reported in patients with AIDS. Urine cultures can be negative, but aspiration and cytology can demonstrate typical septated hyphae. Therapy is systemic amphotericin B and at least 3 mo of itraconazole, or voriconazole. Amphotericin B irrigations into the involved renal unit have been used to supplement systemic therapy. Direct instillation of amphotericin B into the urinary pelvis through a ureteral catheter or nephrostomy tube has been the most successful approach to therapy. Through a retrograde ureteral catheter instillation of a solution of amphotericin (50 mg/L in sterile water) is infused at 40 mL/h. Shade the solution to limit degradation. Monitor pressure with a pop-off mechanism at 20-cm water. (See also Section I: “Fungal Infections, Genitourinary.”)
REFERENCE
Wise GJ, Freyle J. Changing patterns in genitourinary fungal infections. AUA Update Series . Volume XVI, Lesson 1, 1997.
ASPERMIA
DESCRIPTION A condition of no ejaculate, which should be differentiated from azoospermia, where an ejaculate is present but the sperm are absent from the fluid. (See also Section I: “Infertility, Urologic Conside-rations” and “Ejaculatory Disturbances (Delayed, Decreased, or Absent)”; Section II: “Semen Analysis, Technique, and Normal Values”; Section II: “Semen Analysis, Abnormal Findings, and Terminology.”)
CAUSES
• Complete bilateral obstruction of ejaculatory duct
• Congenital anorchidism, imperforate anus, and other congenital anomalies
• Medication (chlorpromazine, α-blockers, methyldopa, imipramine)
• Radical prostatectomy (RP)
• Retrograde ejaculation; failure of seminal emission
• Surgical (bladder neck dysfunction secondary to TURP, TUIP, retroperitoneal lymph node dissection)
REFERENCE
Zorn B, Virant-Klun I, Stanovnik M, et al. Intracyto-plasmic sperm injection by testicular sperm in patients with aspermia or azoospermia after cancer treatment. Int J Androl. 2006;29(5):521–527.
ASSISTED REPRODUCTIVE TECHNOLOGY (ART)
DESCRIPTION ART includes all fertility treatments in which both eggs and sperm are handled. Although the Centers for Disease Control and Prevention does not include treatments in which only sperm are handled, there are various methods of sperm retrieval as defined below:
• Percutaneous epididymal sperm aspiration (PESA): Aspiration of sperm from epididymis percutaneously
• Microsurgical epididymal sperm aspiration (MESA): Done by open surgery
• Testicular sperm aspiration (TESA): Done percutaneously
• Testicular sperm extraction (TESE): Done through open biopsy of testicular tissue
• Intrauterine insemination (IUI) or Artificial insemination (AI): Also not ART by strict definition; however these are methods for fertility performed during ovulation by inserting a catheter into the cervical os and injecting concentrated sperm into the uterus, thereby bypassing the cervical mucous barrier.
The following are classical methods of ARF:
• Gamete intrafallopian transfer (GIFT): Oocytes and semen are retrieved, the semen is concentrated, then both are placed into the fallopian tube by laparoscopy.
• In vitro fertilization (IVF): Fertilization by either incubating sperms with oocytes or by injecting a single live sperm into an oocyte with a micropipette (called intracytoplasmic sperm injection [ICSI]). The resultant embryo is transplanted to the uterus or fallopian tube with a catheter through the cervix.
• ZIFT: After IVF of an egg, the resultant embryo is placed into the fallopian tube laparoscopically, instead of through the cervix.
REFERENCE
Carbone Jr DJ. Male reproductive physiology and assisted reproductive technology. AUA Update Series. Vol. XVIII, Lesson 21:162, 1999.
ASTHENOSPERMIA
DESCRIPTION A general term for defects in sperm movement, usually a decrease in sperm motility to <50–60% of normal. It can be detected on semen analysis and can be a cause of male factor infertility. (See also Section I: “Infertility, Urologic Considerations”; Section II: “Semen Analysis, Abnormal Findings, and Terminology.”)
CAUSES
• Antisperm antibodies
• Hypoandrogenic state
• Idiopathic
• Immotile cilia (Kartagener syndrome and immotile cilia syndrome)
• Infection
• Partial ejaculatory duct obstruction (EDO)
• Varicocele (most common surgically correctable abnormality)
TREATMENT
• Aimed at offending agent (ie, antibiotics for infection, sperm washing for antibodies, varicocelectomy)
• Interest has been noted in vitamins C and E and other free-radical scavengers
• ARTs
REFERENCE
Meacham RB, et al. Male infertility. In: Gillenwater JY, Grayhack JT, Howards SS, Duckett JW, eds. Adult and Pediatric Urology. 3rd ed. St. Louis, MO: Mosby, 1996.
ATHLETIC HEMATURIA
DESCRIPTION Hematuria, microscopic, or gross, can be noted in athletes engaged in high-intensity or long-duration exercise. Usually benign in course. Repeated episodes of hematuria may cause anemia in some athletes. Theorized causes include foot-strike hemolysis, renal ischemia, release of a hemolyzing factor, direct trauma to bladder or kidney, dehydration, myoglobinuria, increased circulation, and NSAIDs. Treatment includes adherence to sensible training guidelines and hydration.
SYNONYMS
• Sport-related hematuria
• Exercise-induced hematuria
REFERENCE
Jones GR, Newhouse I. Sport-related hematuria: A review. Clin J Sport Med. 1997;7(2):119–125.
ATOPIC DERMATITIS (ECZEMA), UROLOGIC CONSIDERATIONS
DESCRIPTION Also called eczema, disseminated neurodermatitis, atopic eczema, and Besnier prurigo, this chronic pruritic eczematous condition affects characteristic sites. In adults, the genitalia is a common site. Patients present with itching, excoriation, edema, erythema, and scaling. As the disease progresses, the skin undergoes lichenification (thickening). The cause is unknown, but there is a familial association with this and other atopic diseases (allergic rhinitis, asthma).
TREATMENT
Topical corticosteroids such as triamcinolone 0.1% BID; nighttime sedation with antihistamines or other agent. Treat stress and remove irritants (soaps, solvents, fabrics made of wool or nylon).
REFERENCE
Edwards L, Lynch PJ. In: Sams WM, et al., eds. Principles and Practice of Dermatology. New York, NY: Elsevier, 1998:960–961.
ATTENTIVE DIGITAL RECTAL EXAM
DESCRIPTION Utilized to obtain prostatic secretions in urine to identify DNA, RNA, protein, and metabolite based biomarkers for the detection of prostate cancer. Clinical studies have identified PCA3 and TMPRSS2:ERG fusion transcripts as promising RNA markers for cancer detection and possibly prognosis. A “light prostatic massage” should be performed, including firm pressure to depress the gland by 1 cm. A total of 3 strokes per lobe should be performed from base to apex and from lateral to median line. (See Attentive digital rectal exam [DRE] Image )
REFERENCE
Truong M, Yang B. Toward the detection of prostate cancer in urine: A critical analysis. J Urol. 2013;189:422–429.
ATYPICAL ADENOMATOUS HYPERPLASIA OF THE PROSTATE (ADENOSIS)
DESCRIPTION Some lesions can be confused with low-grade prostate cancer on small-needle biopsy samples. The differential diagnosis of these confusing pseudoneoplastic lesions includes atypical adenomatous hyperplasia of the prostate (AAH), sclerosing adenosis, postatrophic hyperplasia, basal cell hyperplasia, and others that must be differentiated from low-grade prostatic carcinoma. Histologically, AAH is a crowded focus of small glands. It has not yet been definitively associated with an increased risk of prostate cancer. AAH is no longer considered a premalignant lesion but rather a benign small glandular process of the transition zone that simulates acinar adenocarcinoma. It is recommended to stain for 34βE12, which detects basal cell–specific CK. If basal cell staining is present, this helps to rule out carcinoma. Although the biologic significance of AAH is uncertain, its light microscopic appearance and immunophenotype allow it to be distinguished from carcinoma in most cases. The lesion appears to be distinct from atypical small acinar proliferation prostate (ASAP), which appears to be more associated with prostate cancer. In AAH, rebiopsy is not usually indicated. (See also Section II: “Atypical Small Acinar Hyperplasia, Prostate (ASAP)”; Section II: “Postatrophic Hyperplasia of the Prostate Gland.”)
SYNONYMS
• Small gland hyperplasia
• Atypical adenosis
• Atypical small acinar hyperplasia
REFERENCE
Armah HB, Parwani AV. Atypical adenomatous hyperplasia (adenosis) of the prostate: A case report with review of the literature. Diagn Pathol. 2008;3:34.
ATYPICAL SMALL ACINAR PROLIFERATION, PROSTATE (ASAP)
DESCRIPTION Prostate needle biopsies occasionally contain cells identified as ASAP that are suspicious for but not diagnostic of malignancy. About 2% of contemporary prostate needle biopsy specimens contain collections of small acini that are suspicious for cancer but that fall below the diagnostic threshold and are often reported as “ASAP suspicious for but not diagnostic of malignancy.” Prostate cancer has been identified in specimens from subsequent biopsies in up to 60% of cases of ASAP, indicating this finding is a significant predictor of cancer. Identification of ASAP (with or without high-grade PIN) warrants repeat biopsy for concurrent or subsequent invasive prostate carcinoma. (See also Section I: “Prostatic Intraepithelial Neoplasia”; Section II: “Atypical Adenomatous Hyperplasia and Postatrophic Hyperplasia of the Prostate.”)
REFERENCE
Bostwick DG, Meiers I. Atypical small acinar proliferation in the prostate: Clinical significance. Arch Pathol Lab Med. 2006;130(7):952–957.
AUA (AMERICAN UROLOGIC ASSOCIATION) SYMPTOM INDEX FOR BPH
DESCRIPTION Also called the BPH symptom index, and the AUA symptom score or AUA-SS this standardized instrument assesses the degree of lower urinary tract symptoms (LUTS) due to BPH in men, as well as guides response to treatment. Originally developed by the AUA, it is now used widely used. (See Section VII: Reference tables: AUA Symptom Index/International Prostate Symptom Score [I-PSS].) The AUA Index consists of 7 questions that assess emptying, frequency, intermittency, urgency, weak stream, and straining, with each graded on a score of 0–5. Scores can range from 0–35. The index currently categorizes symptoms as:
• Mild (score ≤7)
• Moderate (score 8–19)
• Severe (score 20–35)
The International Prostate Symptom Score (I-PSS) is identical to the AUA index, except that it adds a single question to assess the quality of life based on the patient’s perception of the problem. This is scored from 0 (or “delighted”) to 6 (or “terrible”).
It is suggested that patients with mild symptoms (AUA-SS ≤7) and patients with moderate or severe symptoms (AUA-SS ≥8) who are not bothered by their symptoms (ie, symptoms do not interfere with daily activities) should be managed by watchful waiting, although a wide range of patients with bothersome moderate to severe symptoms prefer this strategy as well. Today, most patients undergo medical management (α-blockers with or without 5α-reductase inhibitors or 5α-reductase alone prior to any surgical intervention). Surgical options include TURP, transurethral incision of the prostate, open prostatectomy, or minimally invasive therapies (such as transurethral microwave thermotherapy, transurethral needle ablation, and water-induced thermotherapy). (See also Section II: “International Prostate Symptom Score [I-PSS]”; Section VII: “AUA Symptom Index for BPH/I-PSS.”)
REFERENCE
McVary KT, Roehrborn CG, Avins AL, et al. Update on AUA guideline on the management of benign prostatic hyperplasia. J Urol. 2011;185(5):1793–1803.
AZOOSPERMIA
DESCRIPTION The absence of viable sperm on semen analysis and a documented cause of male factor infertility. Azoospermia can be obstructive or nonobstructive. When 1st noted, the sample should be centrifuged and the pellet examined for the presence of sperm. If present, a workup for oligospermia should be performed. A postejaculate urine analysis should be obtained to rule out retrograde ejaculation (ie, the urine contains significant numbers of sperm, 10–15/HPF). If absent, a physical exam for the presence of vas deferens and hormone studies are indicated. Treatment is based on the underlying cause. (See also Section I: “Infertility, Urologic considerations”; Section II: “Semen Analysis, Abnormal Findings, and Terminology.”)
CAUSES
• Congenital absence of vas deferens
• Ductal obstruction
• Germ cell failure
• Gonadotoxins
• Hypogonadotropic hypogonadism
• Idiopathic
• Testicular failure (Klinefelter syndrome)
REFERENCE
Practice Committee of American Society for Reproductive Medicine in collaboration with Society for Male Reproduction and Urology. Evaluation of the azoospermic male. Fertil Steril. 2008;90(5 Suppl):S74–S77.