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7 Cards in this Set

  • Front
  • Back
The SRY gene does what
Triggers the process leading to male gonadal differentiation
Steps in dx of intersexuality
1 Gonads palpable ? +/-
2. mullerian structures on MRI?
3 17-oh progesterone nrl or elev
4.karyotype
5. electrolytes
6.DHEA, testosterone,fsh,lh
Family history signs that differentiate dx
1. sibs c CAH
2. early neonatal death->CAH
3. consang-cah or 5Alpha-reductase def
4 aunt with amenorrea/infert-> male pseudohermaphrodite
what is most commen d/q?
female pseudohermaphoditism due to CAH
most common enzyme def
21 hydroxylase
genetype of female pseudohermaphrodie
46xx
what disorders are associated with ambiguious genitalia
Trisomy 13 and 18
triploidy
4p- 13q
Aniridia-wilms

Single gene
Ellis van creveld
Smith-lemli-Opitz
opitz
opitz-frias
rieger
robinow
carpenter
meckel-gruber
camptomelic dysplaia
androgen insesitivity
Congenital adrenal hyperplasia

Vater
CHARGE