n South African Journal of Obstetrics and Gynaecology - Primary amenorrhoea : Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and late presentation : case report

Volume 21, Issue 1
  • ISSN : 0038-2329
  • E-ISSN: 2078-5135



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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