A rare cause of female gender dysphoria: Report of three cases with low percentage of turner mosaicism

Abstract

Gender dysphoria is a condition caused by a mismatch between the gender assigned at birth and gender identity. Gender development disorders include situations where congenital chromosomal, gonadal, or anatomically gender-related physical features are atypical. In the studies conducted mostly by karyotype analysis, it is reported that the rate of chromosomal abnormality is very low in people with gender dysphoria. In Turner mosaicism, gender dysphoria is not a common finding. In this case series, we examined the phenotype and genotype characteristics of the three cases identified as Turner mosaicism, who applied with gender dysphoria. The patients’ complaints were feeling like a male, negative thoughts about being a female, being uncomfortable with feminine body image, wanting to have a male body. None of our 3 cases had Turner stigmata however their chromosomal or FISH analyses showed that one of them was 45,X/46 XX/47,XXX and two of them were 45 X/46 XX karyotype.