Seda ERİŞEN KARACA, Recep ERÖZ, İlknur ARSLANOĞLU

Kadın Cinsiyet Disforisinin Nadir Bir Nedeni: Düşük Yüzdeli Turner Mozaisizmli Üç Olgu Raporu

Cinsiyet disforisi, doğumda belirlenen cinsiyet ile cinsiyet kimliği arasındaki uyumsuzluğun neden olduğu bir durumdur. Cinsiyet gelişim bozuklukları, konjenital kromozomal, gonadal veya anatomik olarak cinsiyetle ilişkili fiziksel özelliklerin atipik olduğu durumları içerir. Çoğunlukla karyotip analizi ile yapılan çalışmalarda cinsiyet disforisi olan kişilerde kromozomal anormallik oranının çok düşük olduğu bildirilmektedir. Turner mozaisizminde cinsiyet disforisi yaygın bir bulgu değildir. Bu olgu serisinde, cinsiyet disforisi ile başvuran Turner mozaisizmi olarak tanımlanan üç olgunun fenotip ve genotip özelliklerini inceledik. Hastaların şikayetleri erkek gibi hissetmek, kadın olmakla ilgili olumsuz düşünceler, kadın beden imajından rahatsız olmak, erkek bedene sahip olmak istemek şeklindeydi. 3 olgumuzun hiçbirinde Turner stigmatası yoktu ancak kromozomal veya FISH analizleri, birinde 45,X/46 XX/47,XXX ve ikisinde 45 X/46 XX olarak tespit edildi.

Anahtar Kelimeler:

Turner sendromu, cinsiyet disforisi, karyotip, FISH

A Rare Cause of Female Gender Dysphoria: Report of Three Cases with Low Percentage of Turner Mosaicism

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.

Keywords:

Turner's syndrome, gender dysphoria, karyotype, FISH,

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