0521779407-19 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:21
1336 Sex Differentiation Disorders
■Undervirilized male:
➣Bifid scrotum
➣Micropenis
➣Hypospadias
■Cryptorchidism:
➣Usually w/o genital ambiguity
➣Idiopathic, syndromal, or with hypopituitarism
➣Common at birth, resolving by 3 mo
tests
Laboratory
■Blood tests for partial virilization:
➣Karyotype for sex chromosomes
➣LH, FSH
➣Sex steroids: virilized female:
17-hydroxyprogesterone
DHEA
Androstenedione
Testosterone
➣Sex steroids: undervirilized male:
Testosterone
Dihydrotestosterone
Testosterone precursors
Antimullerian hormone
■Delayed puberty:
➣T4, TSH
➣Prolactin
➣Estradiol or testosterone
LH, FSH; if elevated, karyotype
Imaging
■MRI of hypothalamus/pituitary
■Pelvic/abdominal US
differential diagnosis
■Undervirilized male:
➣Phenotype:
46,XY with normal testes
External genitalia undervirilized
➣Internal genitalia normal
➣Dysmorphology syndromes