Disorders of sexual development Flashcards
46XY, +breast, minimal/no axillary & pubic hair, cryptorchid testes, absent uterus/upper vagina
complete androgen insensitivity syndrome
2/2 x linked mutation of androgen receptor
46XX, +breast, nl axillary & pubic hair, rudimentary/absent uterus & upper vagina
Mullerian agenesis = mayer-rokitansky-kuster-hauser syndrome
2/2 hypoplastic/absent mullerian ducts
46XX, +breast, nl axillary & pubic hair, nl uterus, abnormal vagina
Transverse vaginal septum
2/2 malformation of urogenital sinus and mullerian ducts
45XO, var breast, nl axillary & pubic hair, nl uterus & vagina, streaked gonads
Turner syndrome
2/2 complete/partial absence of 1 X chromosome
46XY, -breast, min/absent axillary & pubic hair, nl uterus & vagina, streaked gonads
Complete XY gonadal agenesis = Swyer syndrome
2/2 SRY mutation on Y chromosome