Swyer Syndrome: A Rare Cause of Primary Amenorrhoea
Journal Title: Journal of Medical Science And clinical Research - Year 2015, Vol 3, Issue 11
Abstract
Swyer syndrome, which is pure XY gonadal dysgenesis, is an extremely rare condition, presents with primary amenorrhea, female phenotype and male genotype with fibrous streak gonads. We report a case of Swyer syndrome in a 20 year old girl who presented with primary amenorrhoea and poorly developed secondary sexual characters. Investigations revealed normal thyroid and prolactin levels, high levels of gonadotropins and low levels of estrogen and testosterone. Karyotyping revealed 46 XY. After counseling, the girl underwent diagnostic laparoscopy and bilateralgonadectomy in view of high chance of malignancy in the streak gonads. Histopathology of the streak gonads showed bilateral gonadoblastoma with dysgerminoma. The girl was put on hormone replacement therapy and is on regular follow up. The importance of this condition is its rarity leading to delay in diagnosis, the high risk of malignancy in streak gonads necessitating gonadectomy, the need for hormone replacement therapy for life and the chance of conception by in vitro fertilization as the uterus is retained.
Authors and Affiliations
Deepa V Kanagal
Keywords
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