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Case Report

Young Woman with 46 XY and a Hypoplasticuterus: Swyer Syndrome

Pratibha Singh, Professor, Department of Obstetrics & Gynecology, AIIMS, Jodhpur, Rajasthan 342005, India. , Pratibha Singh1 , S. Shekhar2 , Kuldeep Singh3

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Journal of Global Medical Education and Research 1(1):p 29-31, January- June 2018. | DOI:

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Abstract

Women presenting with primary amenorrhoea require extensive work up. Swyer syndrome or pure 46XY gonadal dysgenesis is a condition with external female phenotype, but fail to attain menarche at the usual age with sexual infantilism. Person with this disorder have female external genitalia but the uterus and fallopian tubes are present, though underdeveloped. They lack functional gonads (ovaries or testes), instead, they have streak gonads. We are reporting a case of young female presenting as primary amenorrhoea, detailed work up revealed it to be Swyer syndrome with partially developed breasts, hypoplastic uterus, and absent streak gonads. These cases are very rare, and require early gonadectomy. This case illustrates a rare case of gonadal dysgenesis and demonstrates the importance of counselling on the options of treatment, especially regarding treatment of dysgenetic gonads, need for replacement therapy and future fertility options.

Keywords: Swyer Syndrome; Pure XY Gonadal Dysgenesis; Gonadectomy.

 

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