Exam 1 Flashcards
where is the sex determining region?
Y chromosome
what is the “default” sex of humans?
female
Where are the pseudoautosomal regions located?
X and Y
Need Par1 for spermatogenesis
what does lyonization do?
deactivates all but one X chromosome per cell
what is the deactivated X chromosome called?
Barr body
Are X linked recessive mutations common in females?
No
XO?
turner syndrome
XXY
kleinfelter syndrome
what are the 4 possible causes of ambiguous genitalia?
sex chromosome abnormalities
lack of testosterone receptors
gonadal dysgenesis
excessive androgens, lack of sex hormone expression in fetus
inheritance of CAH?
autosomal recessive
what is the MOA of CAH?
def in 21 hydroxylase leading to excess androgens
inheritance of androgen insensitivity syndrome?
x linked recessive
XY female
MOA of anrogen insensitivity syndrome?
cannot respond to androgen binding
what organs do androgen insensitivity syndrome people have?
+ testes, vaginal pouch
- ovaries, uterus
presents with amenorrhea
what does campomelic dysplasia have?
SOX9gene mutation
dysfunctional bone structures, ambiguous genitalia
