Successful pregnancy in a patient with Swyer syndrome, or pure 46,XY gonadal dysgenesis

Abstract

Swyer syndrome, or pure 46,XY gonadal dysgenesis, is a rare disorder of sex development, characterised by the failure of sex gland development (ovaries or testes) in a phenotypic female patient. A 24-year-old woman with this syndrome presented at a tertiary academic hospital in South Africa, complaining of primary amenorrhoea and infertility. After gonadectomy and fertility treatment, a rare successful pregnancy outcome was achieved. A patient with Swyer syndrome, in a specialist fertility programme, can maintain a normal pregnancy and delivery.