0521779407-19 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:21
1338 Sex Differentiation Disorders
Ambiguous external genitalia
Internal genitalia may be asymmetric
Most often 46,XX
Further virilization at puberty
➣Mixed gonadal dysgenesis: 45,X/46,XY
➣Turner syndrome:
45,X, but usually mosaicism
Fetal and neonatal lymphedema
Streak gonads, primary amenorrhea
Osteopenia from lack of estrogen
Short stature responds to growth hormone
Aortic coarctation and aortic valve defects
Renal anomalies
Hearing loss
➣Klinefelter syndrome:
47,XXY
Normal masculinization
Small testes, infertility
Testosterone slightly low
Mild developmental delay, learning disorders
Tall stature, gynecomastiamanagement
■Surgical management of genital ambiguity controversial
➣Females:
Clitoral recession in infancy
Vaginoplasty at puberty
➣Males:
Early repair of incomplete midline and hypospadias
Testosterone therapy
Female sex of rearing in complete androgen insensitivity
➣Gonadectomy in gonadal dysgenesis due to tumor risk:
If Y chromosome or testis present in female
Monitor descended testes in male
➣Cryptorchidism:
Orchiopexy in early childhood to reduce risk of tumor, infer-
tility
■Sex steroid replacement:
➣Males: testosterone (injection, patch, gel)
➣Females:
Estrogen alone initially; then cycle with progestin after 1–2 y
Alternative: oral contraceptives