Erkek infetilitesinde genetik değerlendirme

Year 2007, Volume: 14 Issue: 4, 48 - 52, 06.05.2009

Pınar Koşar Nurten Özçelik

Abstract

Süleyman Demirel Üniversitesi
TIP FAKÜLTESİ DERGİSİ: 2007 Aralık; 14(4)










Erkek infetilitesinde genetik değerlendirme



Pınar Aslan Koşar, Nurten Özçelik

Süleyman Demirel Üniversitesi, Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Isparta.



Özet



Infertil vakaların yaklaşık %50.si erkek kökenli bir probleme bağlıdır. Bu derlemede, erkek infertilitesine neden olan genetik faktörler değerlendirilmiştir. Özellikle azospermik ve şiddetli oligospermik hastalarda genetik anormalliklerin sıklığı nedeni ile bu hastalarda genetik değerlendirme gereklidir. Infertilitenin genetik nedenleri, Y-kromozom mikrodelesyonları, konjenital vaz deferens agenezine neden olan kistik fibrozis gen mutasyonları, sayısal ve yapısal kromozom anomalileri, semptomlarından biri infertilite olan genetik sendromlar şeklinde sınıflandırılabilir. Erkek infertilitesinin genetik sebeblerini anlamak, hem tedavi yaklaşımları hem de onların doğacak bebeklerinin taşıyabileceği riskler hakkında hastaların bilgilendirilmesi açısından önem taşımaktadır.



Anahtar Kelimeler: Erkek infertilitesi, kromozomal anormallikler, Y kromozom mikrodelesyonları



Abstract



Genetic evaluation in the male infertility



An around %50 percent of cases with infertility is due to a male factor problem. In this review, it was evaluated the genetic disorders, that are caused male infertility. Because of frequency of genetic abnormality in patients with azoospermia and severe oligozoospermia, genetic examination is mandatory in these patients. The genetic causes of male infertility can be broken down into Y chromosome microdeletions, mutations in the gene for cystic fibrosis, which are caused congenital vas deferens agenesis, numerical and structural chromosomal aberrations, genetically determined syndromes in which infertility is a symptom. An understanding of the genetic causes of male infertility is quite important for the appropriate counseling of patients about treatment options and risks to their potential offspring.



Key words: Male infertility, chromosomal abnormalities, Y chromosome microdeletions

Keywords

Erkek infertilitesi, kromozomal anormallikler, Y kromozom mikrodelesyonlarý

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