A Probable Case of True Hermaphrodite With 46,XXq/ XY Mosaicism

Abstract

A married women of 35 years age with primary amenorrhoea and poorly developed secondary sex characters but having a frankly feminine external genitalia was found to be a probable case of true hermaphrodite. There was a normal sized testis with epididymis and vasdeferens within the left swollen labia majora. At the position of the overies two greyish white bodies were present, which looked very much like ovaries, but small in size and inter-connected by a band of fibrous tissue. In buccal as well as vaginal smears a very low percentage of cells had a sex-chromation body. The size of the sex chromation was howeevr, much reduced. The G-band analysis of chromosomes, made from leucocyte cultures, revealed a 46, XXq-|46, XY sex chromosome mosaicism with predominance of 46, XY type of cells. © 2024 Georg Thieme Verlag. All rights reserved.