Swyer’s syndrome: a rare cause of primary amenorrhoea
Keywords:
Swyer’s syndrome, Primary amenorrhoea, KaryotypingAbstract
This is a rare case of pure gonadal dysgenesis, the exact incidence of the condition is unknown but can be estimated at 1:80 000 births. The patient presented with primary amenorrhoea , after complete evaluation it was diagnosed as Swyer’s syndrome, which is 46,XY complete gonadal dysgenesis (46,XY CGD) characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped (”streak”) gonads, no sperm production, and presence of normal müllerian structures.
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