Journal of Human Reproductive Science
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CASE REPORT Table of Contents   
Year : 2019  |  Volume : 12  |  Issue : 3  |  Page : 267-269
A rare case of swyer syndrome in two sisters with successful pregnancy outcome in both

Department of Obstetrics and Gynecology, Jindal IVF and Sant Memorial Nursing Home, Chandigarh, India

Correspondence Address:
Dr. Ritika Bajaj
Jindal IVF and Sant Memorial Nursing Home, Sector 20, Chandigarh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jhrs.JHRS_14_19

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Swyer syndrome is a disorder of sex development characterized by gonadal dysgenesis in a phenotypic female with normally developed Mullerian structures but a 46XY karyotype resulting from failure of testicular development in the early embryogenesis. It can have X-linked, Y-linked, or autosomal inheritance. We had a case of two sisters who presented with primary amenorrhea and primary infertility. On investigation, both had hypergonadotropic hypogonadism, 46XY karyotype, and streak gonads. They conceived following in vitro fertilization (IVF) with ovum donation. Prophylactic gonadectomy has been done in one and advised in other due to the increased risk of gonadoblastoma which is as high as 15%–35%. Such patients should be counseled that despite hypoplastic uterus, successful pregnancy can be achieved through IVF and ovum donation.

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