ea0075r10 | Reproductive Endocrinology | EYES2021
Aksiks Jekabs
, Erta Gita
Swyer syndrome (46XY karyotype) is a rare disorder of sexual development. Patients phenotypically appear female with normal external genitalia and vagina. 14 year old girl is evaluated for primary amenorrhea. She is 176 cm and weighs 61 kg (BMI=19.7 kg/m2) she has had significant growth for the past year. The girl has a vagina with 7 cm in length, there is no terminal hair or breast development (Tanner I). MRI of pelvis shows uterine hypoplasia, ovary agenesi...