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