Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis

The Journal of Obstetrics and Gynaecology Research
Alka KriplaniRanjit Manchanda

Abstract

A wide spectrum of phenotypic manifestations are seen in cases with 45X/46XY mosaicism. We present a case with 45X/46XY having female phenotype with Turner's stigmata. Prophylactic laparoscopic gonadectomy was performed and the patient was found to have mixed gonadal dysgenesis with bilateral gonadoblastomas. Microinvasive seminomas were also detected in both gonadoblastomas. The presence of Y cell line in karyotype prompted early and prophylactic gonadectomy, a procedure which is life-saving for these individuals.

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Citations

Mar 30, 2013·Economic Botany·Eliezer E Goldschmidt
Apr 17, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ayhan AbacıMerih Berberoğlu

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