Probable Familial Mixed Gonadal Dysgenesis (Dysgenetic Male Pseudohermaphroditism) Case Showing Xo/Xy/Xyy Mosaicism

Year 1970, Volume: 23 Issue: 6, 1793 - 1801, 31.12.1970

Mahmut Kafkas

https://izlik.org/JA68HF62DD

Abstract

Bu makalede, fenotipik olarak normal erkek görünümünde olan ve XO/XY/XYY mozaik karyotipine sahip 40 yaşındaki bir mixed gonadal disgenezi (disgenetik erkek psödohermafroditizm) vakası sunulmaktadır. Hasta sağ skrotal bölgede sabit kitle (hernia uteri inguinale) ve orta derecede jinekomasti şikayetleriyle başvurmuştur. İki kez evlenmesine rağmen çocuk sahibi olamamıştır. Aynı ailede azoospermik bir yeğenin bulunması olası ailesel geçişi düşündürmektedir. Histopatolojik incelemede testiküler doku ile birlikte immatür uterus ve tuba uterina tespit edilmiştir. Sitogenetik analiz XO/XY/XYY mozaikliğini doğrulamıştır. Bu vaka, Türkiye'de türünün ilk örneği olarak tıbbi genetik ve interseks bozuklukları literatürüne katkı sağlamaktadır.

Keywords

Mixed gonadal disgenezi , Psödohermafroditizm , Kromozomal mozaik

Xo/Xy/Xyy Mozaikizmini Gösteren Muhtemel Ailesel Karışık Gonadal Disgenezis (Disgenetik Erkek Psödohermafroditizmi) Vakası

https://izlik.org/JA68HF62DD

Abstract

This paper presents a 40-year-old phenotypically normal male diagnosed with mixed gonadal dysgenesis (dysgenetic male pseudohermaphroditism), exhibiting XO/XY/XYY chromosomal mosaicism. The patient presented with right-sided scrotal swelling (hernia uteri inguinale) and moderate gynecomastia. Despite two marriages, he remained infertile, and a maternal nephew was also diagnosed with azoospermia, suggesting possible familial inheritance. Histopathological analysis revealed testicular tissue along with an immature uterus and fallopian tubes. Cytogenetic analysis confirmed complex chromosomal mosaicism. This appears to be the first documented case of its kind in Turkey, contributing valuable data to the field of clinical genetics and intersex conditions.

Keywords

Mixed gonadal dysgenesis , Pseudohermaphroditism , Chromosomal mosaicism

References

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