Swyer Syndrome Flashcards
0
Q
Features
A
Externally female
Streak gonads, need to be removed as risk of malignancy
Uterus tubes vagina are normal
Primary amenorrhoea
No secondary sex characteristics
Pubic hair but sparse
1
Q
Genetics
A
XY gonadal dysgenesis
Hypo gonadism in 46 XY
There are mutation to the SRY gene so the Y determining factors do not develop
