A case of male pseudohermaphroditism with an ahnormal triple analyte screening result

Duı-ing a routine screening program for Down's syndrome. a patient was detected tü be in the high-risk group, because the human chorionic go-nadotropiıı level was high and the unconjugated est-riol level was low. An amniocentesis was perfrırmed and the karyotype was 46 XY. However, at deliver), the infant was found to be a male pse-udohermaphrodite due ta 313-01-1 dehydrogenase de-ficiency. We believe that the result of the triple analyte screening can not be related ta this enzyme deficienty.