Stuff

Question 1

TFs for testes development

Answer 1

SOX9 (target for SRY)
With SF1 it elevates AMH concentration
SRY works on undifferentiated gonad at 6th week
Anti-testes: DAX1, WNT (so B-catenin)

Question 2

For Ovaries to develop you need …

Answer 2

Two Xs and absent Y
Migration of germ cells (from yolk sac to genital ridge)
Genes: DAX1, WNT-4, RSPO1, FOXL2

Question 3

Wolffian Ducts become …

And require …

Answer 3

Epididy, Va def, seminal vesicles
Requires T (from leydig) and AMH (from sertoli) BEFORE 8th WEEK

Question 4

Mullerians become …

And require …

Answer 4

Fallopian, midline uterus, upper vag

Requires absence of local T and absence of AMH

Question 5

Glans/Clitoris come from …

Answer 5

Genital tubercle

Question 6

Penile urethra/labia minora come from …

Answer 6

Urethral folds

Question 7

Scrotum/labia majora come from …

Answer 7

Labial-scrotal (genital swellings)

Question 8

External genitalia are complete by …

Answer 8

13 weeks, so defects before 13 weeks CANNOT be corrected by androgen exposure after 13 weeks
(for female infant can cause clitoromegaly but not penis/penile urethra formation)

Question 9

Most common CAH?
And how to screen?
And causes?

Answer 9

21-hydroxylase defic (AR, 6p)
converts 17-OH-progesterone to –> deoxycortisol
SO measure 17-OH progesterone
ONLY CAH THAT NEWBORN SCREEN PICKS UP
Causes virilized female genitals (no effect on male genitals)
With hyperpigmentation/hypOnatremia/hypERkalemia

Question 10

11B-hydroxlase defic is NOT associated with?

Answer 10

Salt wasting, because mineralocorticoid activity retain
So is assoc with HTN
Often missed until boy grows pubes at age 2

Question 11

StAR defic
3B defic
17a/17,20 lyase defic

Answer 11

infant looks female (no T)
Salt wasting, virilization in girls, undervirilization in boys
No salt wasting but hypO-K, so HTN, undervirilized boys, females present at puberty with no secondary dev