Abstract
PurposeSwyer syndrome is one of the rare causes for disorders of sexual development.Case reportAn 18-year-old girl presented with complaints of inability to attain menarche. Physical examination revealed underdeveloped breast with absent pubic and axillary hair; however, the vagina was well canalized. Her hormonal profile was of hypergonadotropic hypogonadism. USG and MRI demonstrated hypoplastic uterus with very small ovaries. Chromosomal analysis reported 46 XY genetic makeup. Given the higher risk of malignancy in dysgenetic gonads, the patient underwent laparoscopic gonadectomy and had been put on hormone replacement therapy.ConclusionSwyer syndrome, though a very rare entity, should be kept in mind while evaluating primary amenorrhea. Gonadectomy should be performed early once diagnosis is made to avoid the risk of malignancy.
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