Prophylactic gonadectomy in 46 XY females; why, where and when?

Abstract

Objectives We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy. Case presentation Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy. Conclusion Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.

A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review

“…A significant problem associated with Swyer syndrome is a high prevalence of tumors within dysgenetic gonads [2,4]. Among patients without familial history, the risk of malignancy ranged between 15-45% [40][41][42] and the median age of diagnosis in these patients was 17 years (range 15-20) [43]. In our collection of familial cases, the diagnosis in siblings was earlier (average 15 years, but the youngest patient was 8 months old) and the tumors were present in 66.6% of cases.…”

A Case Report of Turner Syndrome Diagnosed at Age 61 Years

“…When an abnormal Y chromosome is present, gonadectomy is usually performed to prevent malignancy of the remaining gonads [ 7 ]. More commonly, this is performed in females with an XY karyotype, usually at a much earlier age, to eliminate the malignant potential of suggestive gonadal tissue.…”