Swyer Syndrome in Phenotypic Female with 46,XY Karyotype

Abstract

Individuals with Swyer syndrome have an XY karyotype and are phenotypically female. The prevalence of Swyer Syndrome is about 1 in 30,000 and it is an extremely rare condition. The present study aimed to describe the phenotypic and genotypic variations of two patients with Swyer syndrome. Case 1: A 24-year-old female who presented with primary amenorrhea, infertility with increased FSH level (59.91 mLU/mL) and Case 2: A 29-year-old female with primary infertility was referred. A 2 mL of peripheral blood was drawn for karyotyping. Cytogenetic analysis was carried out using standard GTG banding technique. Cytogenetic analysis revealed a 46,XY karyotype in Case 1 and 46,XY,15cenh+ in Case 2. Q-Banding confirmed the presence of Y chromosome. In addition, Fluorescence In Situ Hybridization (FISH) using CEP X and Y probe and LSI SRY/CEPX probe confirmed the presence of SRY on the Y chromosome. The result showed the presence of sex-determining region of the Y chromosome and also validating the cytogenetic and molecular cytogenetic interpretations. Earlier diagnosis is important and karyotyping is mandatory in these cases.

Keywords

• cytogenetics
• fluorescence in situ hybridization
• karyotyping
• primary amenorrhea
• primary infertility