Disorders of Sexual Development

Question 1

Androgen Insensitivity Syndrome (AIS)

Answer 1

46, XY
x-linked gene, AR
Abnormal androgen receptors
under virilization to sex reversal
in the past, called "testicular feminization"

Question 2

5 - Alpha Reductase Deficiency

Answer 2

46, XY
decreased testosterone to dihydrotestosterone
undervirilized male–>
increased virilized at puberty

Question 3

SRY gene disorder

Answer 3

46 XY or 46 XX
Y linked gene
deletion—> sex reversal, phenotypical normal female
ectopic prescence in XX—> phnotypical normal male
mutation of SRY gene—> decreased anti mullerian hormone, under virilization male.

Question 4

Denys-Drash & Frasier Syndrome

Answer 4

Sex reversal 46 XY
Mutation WT1 gene(TF for SRY gene)
chronic kidney disease
Wilms Tumor risk

Question 5

Congenital Adrenal Hyperplasia

Answer 5

ambiguous genitalia 46 XX
21 hydroxylase deficiency
Decreased sodium and chloride
Increased potassium