An Unusual Cause of Primary Amenorrhea

Abstract

Complete or Pure gonadal dysgenesis (Swyer syndrome) is a form of disorder of sex development, characterized by bilateral streak gonads, normally developed Mullerian structures with female-appearing external genitalia, and hormonal profile typical of hypergonadotropic hypogonadism¹. Patients usually present in adolescence with primary amenorrhea and lack of secondary sexual characteristics.

The purpose of reporting this case is to sensitize our physicians regarding rare causes of primary amenorrhea. A phenotypic female may present in adulthood with concern of primary amenorrhea and absent breast development. There is a high risk of gonadal malignancies in these cases as well, which underscores the importance of early diagnosis and appropriate management.