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Abstract

Objective: Swyer syndrome in siblings is a rare entity. The risk for gonadal malignancies is more. Swyer syndrome running in families is a rare event.
Case Presentation: We are presenting this rare entity involving two affected siblings born to a nonconsanguineous couple. A 19 year old female presented with primary amenorrhea. The clinical findings, laboratory, radiological investigations and genetic study revealed Swyer syndrome. On follow up, we found that the elder sibling has similar presentation.
Conclusion: Early diagnosis and prophylactic gonadectomy plays an important role as chances of gonadoblastoma in these cases are high and increases with age. Psychological support and social rehabilitation should also be included in management.

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