Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus

• Main Authors: Azidah AK, Nik Hazlina NH, Aishah MN
• Format: Article
• Language: English
• Published: Academy of Family Physicians of Malaysia 2013-01-01
• Series: Malaysian Family Physician
• Subjects: swyer syndrome; gonadal dysgenesis; hypoplastic uterus
• Online Access: http://www.e-mfp.org/2013v8n2/swyer-syndrome.pdf

Swyer syndrome or pure 46, XY gonadal dysgenesis is a condition in which the individuals have female appearance. They classically present as sexually infantile phenotypic females with primary amenorrhoea. People with this disorder have female external genitalia but the uterus and fallopian tubes are underdeveloped. However, they do not have functional gonads (ovaries or testes). Instead, they have streak gonads. We are reporting a case of Swyer syndrome with partially developed breasts, hypoplastic uterus, and absent streak gonads. The patient was treated with hormonal therapy and few years after her presentation, breast and uterine development were noted. In view that the patient is already married, the option of fertility was discussed with her. This case illustrates a rare case of gonadal dysgenesis and demonstrates the importance of counseling on the options of treatment, especially regarding fertility.