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