Ambiguous genitalia Flashcards
1
Q
Your colleague asks you to consult on a case. You notice the patient is young had a nephrectomy due to a wilms tumor, and is phenotypically female (except for the penis like clitoris), but genotypical male. What genetic mutation is associated with this syndrome?
If the patient was older and lacked a wilms tumor but began to have nephropathies and was unresponsive to steroid treatment; how might your classification change.
A
WT 1 mutation associated with Denys Drash syndrome
Increased risk of gonadoblastoma, dysgerminoma, Wilms tumor.
Frazier
