ESPE Abstracts

5-alpha-reductase is an enzyme for converting testosterone to dehydrotestestrone (DHT). A five-month-old infant with a karyotype of 46 XY and female genitalia referred to endocrinology clinic. Regarding the presence of Down syndrome in the family medical history, her mother had amniocentesis during pregnancy. The amniocentesis mentioned xy karyotype. However, repeated ultrasounds mentioned female genitalia. After birth, at 5 months, a first ultrasound mentioned no testis but s...