hrp0092p3-234 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Diagnostic Dilemma in a 46 XY Female

Waldner Richelle , Rosolowsky Elizabeth , Caluseriu Oana , Grimbly Chelsey

Introduction: Disorders of sex development (DSD) are conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex. We present a case of a phenotypic 46 XY female with primary amenorrhea and full thelarche, presence of Mullerian structures, elevated testosterone with no virilization, and bilateral adnexal masses. Our differential diagnosis included Androgen Insensitivity and Gonadal Dysgenesis.Case Descriptio...