0521779407-19 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:21
Sex Differentiation Disorders 1337➣Leydig cell agenesis
➣Defects in testosterone biosynthesis:
External genitalia range from female to ambiguous
Some virilization at puberty from androgen precursors
Responds to testosterone
➣5-alpha-reductase deficiency:
Failed conversion of T to more potent DHT
Decreased body and facial hair, no balding, small prostate
Poor response to testosterone injections
Some masculinization at puberty with changes in gender iden-
tity
■Androgen insensitivity:
➣Complete form:
Breast development at puberty, amenorrhea
Pubic, axillary hair sparse
Testes in inguinal hernia
Gonadectomy indicated
Normal female external genitalia with blind vagina
Uterus, cervix, upper vagina, fallopian tubes absent
➣Incomplete forms present with genital ambiguity, infertility
■Virilized female:
➣46,XX with normal ovaries and mullerian structures
➣Ambiguous external genitalia from androgen exposure in utero
➣Placental aromatase deficiency
➣Virilizing adrenal or ovarian tumor
➣Congenital adrenal hyperplasia (CAH)
➣21-hydoxylase deficiency most common
➣Classical CAH:
➣Presents in neonate
Genital ambiguity in females
Decreased cortisol in all
In salt losers: Hyponatremia, hyperkalemia, hyperreninemia,
hypoaldosteronism
Elevated serum 17-hydroxyprogesterone (17-OHP)
➣Nonclassical CAH:
Presents later
Progressive virilization: acne, hirsutism, clitoromegaly
Menstrual disorder
■Gonadal dysgenesis:
➣True hermaphroditism:
Both ovary and testis