Disorders of sexual development Flashcards

1
Q

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

A

complete androgen insensitivity syndrome

2/2 x linked mutation of androgen receptor

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2
Q

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

A

Mullerian agenesis = mayer-rokitansky-kuster-hauser syndrome

2/2 hypoplastic/absent mullerian ducts

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3
Q

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

A

Transverse vaginal septum

2/2 malformation of urogenital sinus and mullerian ducts

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4
Q

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

A

Turner syndrome

2/2 complete/partial absence of 1 X chromosome

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5
Q

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

A

Complete XY gonadal agenesis = Swyer syndrome

2/2 SRY mutation on Y chromosome

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