Case reports

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

Andreas Chrysostomou


Simple 46,XY gonadal dysgenesis, 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.

Author's affiliations

Andreas Chrysostomou, Department of Obstetrics and Gynaecology, Johannesburg Hospital and University of the Witwatersrand, Johannesburg, South Africa

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Swyer syndrome; Simple 46,XY gonadal dysgenesis; Delayed puberty; Primary amenorrhoea; Primary infertility

Cite this article

South African Journal of Obstetrics and Gynaecology 2015;21(1):16-17. DOI:10.7196/sajog.891

Article History

Date submitted: 2014-06-13
Date published: 2015-05-21

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