Disorders of Sex Development

Question 1

47, XXY

Answer 1

Klinefelter’s characterized by small tesres, inferility, gynecomastia, tall stature/increased leg length and hypogonadism

Question 2

Gonadal dysgenesis; 45, X

Answer 2

Turner’s syndrome characterized by bilateral streak gonads, primary amenorrhea, short stature and multiple congenital anomalies

Question 3

Prenatal diagnosis of TS

Answer 3

Chorionic villus sampling or amniocentesis