A rare case of swyer syndrome in two sisters with successful pregnancy outcome in both

Journal of Human Reproductive Sciences

关键词: Gonadal dysgenesis;    hypergonadotropic hypogonadism;    primary amenorrhea;    Swyer syndrome;   

DOI  :  10.4103/jhrs.JHRS_14_19

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown