Bilateral Germ cell tumours in a patient with Swyer Syndrome

Abstract

Swyer syndrome, or pure gonadal dysgenesis is a medical condition associated with 46 XY karyotype and primary amenorrhoea in a phenotypic female. In this syndrome, there is an abnormality in testicular differentiation. Patients with disorders in sexual differentiation have an increased risk for development of gonadal malignancies. We report a case of a 14-year-old girl who was investigated for primary amenorrhoea, who was finally diagnosed with Swyer syndrome. At gonadectomy, this girl was found to have bilateral gonadoblastomas with right side being transformed into a germinoma. The case was complicated by the fact that the girl was treated for dyserythropetic anaemia, which may cause a hypo gonadotrophic hypogonadism, contributing to delayed puberty.