Internal Medicine

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