Definition (Pediatr Ann 2006;35:916)
• Lack of 2° sex characteristics by 13 yo (girls) or 14 yo (boys); no menarche by 16 yo
Etiology
• Includes: Hypogonadotropic (constitutional delay, chronic dz, malnut, Kallmann, pituitary, or other CNS dz) or hypergonadotropic (Turner, Klinefelter)
Diagnostic Studies
• If signs of puberty are present, AM testosterone (males) or estradiol (females)
• If not, FSH/LH, thyroxine, TSH, IGF-1, prolactin, bone age, test smell (Kallmann)
• Karyotype for hypergonadotropic hypogonadism, androgen insensitivity, Turner
• Pelvic U/S (girls)
Management
• Treat underlying cause if identified
• For male constitutional delay of puberty, low-dose testosterone can achieve 2° sexual characteristics and growth w/o premature epiphyseal closure
• Cont hypogonadism off supplemental testosterone after age 18 suggests GnRH def
• For female constitutional delay of puberty, short courses of estrogen therapy (w/ trials of withdrawal) can achieve similar ends
• After age 18, if cont hypogonadism, GnRH def is likely
• Replacement doses of estrogen and progesterone should continue