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South African Journal of Obstetrics and Gynaecology

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Primary amenorrhoea: Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and late presentation

A Chrysostomou

Abstract


Simple 46, XY gonadal dwysgenesis, also called Swyer syndrome, is a very rare condition, estimated to occur in approximately 1/100 000 people. The condition first becomes apparent in adolescence, with delayed puberty and primary amenorrhoea. This is a case study of a patient who presented with primary amenorrhoea and primary infertility. She was a 24-year-old phenotypically female patient with a delayed diagnosis of Swyer syndrome.




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