Elçin Latife KURTOĞLU, Serap SAVACI, Cemal EKİCİ, Emine YAŞAR, Ali BEYTUR, Elif YEŞİLADA

46,XX Testiküler Bozukluğu Olan Erkek Hasta: Bir Olgu Sunumu

46,XX testiküler bozukluk nadir görülen bir genetik sendromdur. Memelilerde cinsiyet belirleyici bölge Y kromozomunda bulunmaktadır ve erkek fenotipinin gelişiminden sorumlu olan faktörün kodlanmasında büyük rol oynamaktadır. Bu çalışmada infertilite nedeniyle hastanemize başvuran yetişkin erkek hastanın klinik bulguları ile beraber hormonal, moleküler ve sitogenetik analiz sonuçları değerlendirilip sunulmuştur. Yapılan çalışmalar sonucunda 46,XX karyotipine ulaşılmış ve SRY bölgesinin varlığı ile birlikte AZFa sY84 sY86 , AZFb sY127, sY133, sY134 , AZFc sY157, sY254, sY255 ve AZFd sY152, Sy153 bölgelerinde delesyon saptanmıştır. Ayrıca, Xp11.1-q11.1, Yp11.31, Yq12 bölgelerine özgü FISH probları kullanılarak yapılan analizde hastanın iki X kromozomunu ve SRY bölgesini taşıdığı belirlenmiştir. Y kromozomunda bulunan SRY geni ve AZF gen bölgeleri, erkek cinsiyeti ve fertilitenin belirlenmesinde birinci derecede rol oynamaktadır. Sonuç olarak, 46,XX karyotipli erkek hastalarda sitogenetikle birlikte moleküler genetik ve moleküler sitogenetik analizlerin yapılması ve bu analizler ışığında genetik danışma verilmesi büyük önem taşımaktadır

Anahtar Kelimeler:

46, XX, Y kromozom mikrodelesyonu

Male Patient with 46,XX Testicular Disorder: A Case Report

46,XX testicular disorder of sex development is a rare genetic syndrome. The sex determining region Y gene plays major role in encoding a testis determining factor, which is located on the Y chromosome. The results of hormonal, molecular and cytogenetic analysis with the clinical features who adult male patient admitted to the hospital due to infertility is explained in this study. It has been reached to 46,XX karyotype results and also, deletions of AZFa sY84 sY86 , AZFb sY127, sY133, sY134 , AZFc sY157, sY254, sY255 ve AZFd sY152, sY153 regions with the existence of the SRY gene were determined by results of analysis. Additionally, in analysis that perform to using Xp11.1-q11.1, Yp11.31, Yq12 regions spesific FISH probes, it was determined that the patient has two X chromosomes and SRY region. SRY gene and AZF gene regions on Y chromosome plays a major role in determining male gender and fertility. Consequently, in male patients with 46,XX karyotype, to perform molecular genetics and molecular cytogenetic analysis with cytogenetics and in the light of these analysis, genetic counseling is very important

Keywords:

46, XX, Y chromosome microdeletions,

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