Disorders of Sex Dev.

Question 1

WT1 disorder,

Answer 1

AD
46,XY DSD
steroid resistant nephrotic syndrome, wilms tumor, disorder of testicular dev.

Question 2

5 alpha reductase deficiency;

Answer 2

SRD5A2, AR
founder in DR/Brazil, 46XY
born as “girls”, but virilize during puberty due to testosterone increases
enzyme that converts testosterone>dihydrotestosterone

Question 3

Androgen insensititivy;

Answer 3

AR gene, XL
mild- gynecomastia, male factor inferitlity
partial-ambigous genetalia, normal internal genetalia, infertility
complete: non-ambiguous female genetalia, short genetalia, male internal genetalia; breast dev. but no uterus

Question 4

Congenital adrenal hyperplasia; CYP21A2

Answer 4

most common cause of 46, XX DSD (ie female w/ excess androgen)
aka 21-hydroxylase deficiency
salt wasting- medical emergency
ambiguous genetalia, clitoromegaly
has pseudogene, so not amenable to NGS, needs MLPA or long read
dx- elevated 17OHP (on NBS)