Disorders of sexual development

Question 1

46XY, +breast, minimal/no axillary & pubic hair, cryptorchid testes, absent uterus/upper vagina

Answer 1

complete androgen insensitivity syndrome

2/2 x linked mutation of androgen receptor

Question 2

46XX, +breast, nl axillary & pubic hair, rudimentary/absent uterus & upper vagina

Answer 2

Mullerian agenesis = mayer-rokitansky-kuster-hauser syndrome

2/2 hypoplastic/absent mullerian ducts

Question 3

46XX, +breast, nl axillary & pubic hair, nl uterus, abnormal vagina

Answer 3

Transverse vaginal septum

2/2 malformation of urogenital sinus and mullerian ducts

Question 4

45XO, var breast, nl axillary & pubic hair, nl uterus & vagina, streaked gonads

Answer 4

Turner syndrome

2/2 complete/partial absence of 1 X chromosome

Question 5

46XY, -breast, min/absent axillary & pubic hair, nl uterus & vagina, streaked gonads

Answer 5

Complete XY gonadal agenesis = Swyer syndrome

2/2 SRY mutation on Y chromosome