Week 5: Medical Genetics- DSDs

Question 1

Inheritance of 5-alpha-reductase deficiency

Answer 1

AR

Question 2

External genitalia in 5-alpha-reductase deficiency

Answer 2

ambiguous or female; masculinize at puberty

Question 3

Internal genitalia in 5-alpha-reductase deficiency

Answer 3

Testes

Question 4

Inheritance of Congenital Adrenal Hyperplasia

Answer 4

AR

Question 5

External genitalia in CAH

Answer 5

ambiguous (feminine at puberty if treated with cortisol)

Question 6

Internal genitalia in CAH

Answer 6

ovaries

Question 7

Other features in CAH

Answer 7

Salt wasting, hirsutism, irregular menstruation

Question 8

Inheritance of Campomelic Dysplasia

Answer 8

AD

Question 9

External genitalia in Campomelic Dysplasia

Answer 9

Ambiguous

Question 10

Internal genitalia in Campomelic Dysplasia

Answer 10

Can be testes, ovaries or both

Question 11

Other features in Campomelic dysplasia

Answer 11

Club feet, abnormal face, bowed/short long bones

Question 12

Inheritance of Complete Androgen Insensitivity Syndrome

Answer 12

AR

Question 13

External genitalia in CAIS

Answer 13

Female

Question 14

Internal genitalia in CAIS

Answer 14

undescended testes

Question 15

Inheritance of SLO

Answer 15

AR

Question 16

External genitalia in SLO

Answer 16

ambiguous

Question 17

Other features of SLO

Answer 17

FTT, ID, CHD, CL+P, 2-3 Y-shaped toe syndactyly

Question 18

Inheritance of Kallman Syndrome

Answer 18

XL

Question 19

External genitalia in Kallman Syndrome

Answer 19

micropenis, cryptorchidism

Question 20

Internal genitalia in Kallman Syndrome

Answer 20

Testes

Question 21

3 other features in Kallman syndrome

Answer 21

Anosmia, unilateral renal genesis, abnormalities of bones in fingers/toes