A Testicular Regression Syndrome Presenting with Feminisation

Abstract

Testicular regression syndrome is a kind of genital abnormality associated with cessation of testicular function. In the patients with 46 XY karyotype, genital elements are absent, and development of genital duct, urogenital sinus and external genitalia is heterogeneous. Here we described a female patient with the complaint of primary amenorrhea and absence of breast development. After imaging studies, dynamic tests, karyotype analysis and laparoscopic investigation the diagnosis was testicular regression syndrome.