Risks of Gonadal Malignancy and Reproductive Prognosis in Individuals with Congenital Sex Development Disorders

Abstract

The risk of gonadal malignancy varies according to the type of sex development disorder. It depends on the presence of the Y chromosome in the karyotype and the location of the gonads.

Aim of the study: Assessment of the risks of gonadal malignancy and reproductive prognosis in female phenotype patients with congenital disorders of sex development and Y chromosome in karyotype. 
Materials and methods: 48 patients with female phenotype and congenital disorders of sex development, with detected Y chromosome in the karyotype (46, XY and 45,X/46,XY) were examined. All patients underwent clinical, gynecological, hormonal, and ultrasound examinations. In 32 cas-es, gonadectomy was performed. A Histomorphological study of excised gonads was carried out. Based on conducted examinations, a complete form of 46,XY gonadal dysgenesis (Swyer syndrome) was identified in 3 cases, in 2 cases – a partial form of gonadal dysgenesis with a background of the Turner syndrome phenotype. The complete form of androgen insensitivity syndrome (CAIS) was diagnosed in 33 cases, and a partial form of androgen insensitivity syndrome (PAIS) in patients with female phenotype – in 8 cases. In 2 cases, an ovotesticular disorder was established. 
Results: Patients with complete and partial forms of gonadal dysgenesis with intra-abdominal localization of gonads, taking into account the high risk of malignancy, underwent gonadectomy immediately after diagnosis, regardless of age, to prevent malignancy. Subsequently, they were prescribed hormone therapy with estrogens and estrogen-gestagens. Despite the pessimistic re-productive prognosis in 2 cases, pregnancy and the birth of a healthy child was achieved with egg donation.