46, XY complete gonadal dysgenesis (Swyer syndrome): Report of two different cases

DesignCase report.SettingDepartment of Obstetrics and Gynecology, Alexandria University, Egypt.IntroductionSwyer's syndrome is a distinct type of pure gonadal dysgenesis characterized by a 46 XY karyotype in female phenotypic patients. It shows an abnormality in testicular differentiation.ObjectiveTo present cases of Swyer syndrome.Material and methodsWe present the clinical, sonographic, endocrine findings, genetic analyses and treatment in two cases of phenotypic females with XY karyotype and gonadal dysgenesis.ResultsAll patients presented with primary amenorrhea. All patients had female-type external genitalia. Secondary sexual characters were developed in all cases. FSH levels were high. Chromosome analyses revealed a 46, XY male karyotype with no detectable mosaicism. The surgical findings were steak gonads, one of them with bilateral gonadoblastoma.Intervention(s)Bilateral gonadectomy followed by hormone replacement therapy.ConclusionWe aimed to underline the necessity of considering 46, XY complete pure gonadal dysgenesis in the differential diagnosis in every adolescent female patient with delayed puberty and the importance of early gonadectomy in order to avoid the risk for gonadal tumor development.