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Surgery Journal
Year: 2013 | Volume: 8 | Issue: 1 | Page No.: 1-3
DOI: 10.36478/sjour.2013.1.3  
46, XY Complete Gonadal Dysgenesis (Swyer Syndrome): Report of Two Different Cases
Ahmed S. Elagwany , S. Ziad and M.D. Abouzaid
Abstract: Swyer’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. To present cases of Swyer syndrome. Researchers present the clinical, sonographic, endocrine findings, genetic analyses and treatment in two cases of phenotypic females with XY karyotype and gonadal dysgenesis. All 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. Bilateral gonadectomy followed by hormone replacement therapy. Reseachers 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.
How to cite this article:
Ahmed S. Elagwany, S. Ziad and M.D. Abouzaid, 2013. 46, XY Complete Gonadal Dysgenesis (Swyer Syndrome): Report of Two Different Cases. Surgery Journal, 8: 1-3.
DOI: 10.36478/sjour.2013.1.3