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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
Suleyman Demirel University TIP FACULTY JOURNAL: December 2007; 14(4) Genetic assessment in male infection Pınar Aslan Koşar, Nurten Özçelik Suleyman Demirel University, Faculty of Medicine, Department of Medicine Biology, Isparta. About 50 percent of infertile cases are due to a male problem. In this collection, genetic factors that cause male infertility have been evaluated. Specifically in azospermic and severe oligospermic patients, genetic assessment is required in these patients due to the frequency of genetic abnormalities. Genetic causes of infertility, Y-chromosome micro-divisions, cystic fibrosis gene mutations that cause congenital vaz deferens agenesis, numerical and structural chromosome anomalies, one of the symptoms can be classified in the form of genetic syndrome that is infertility. Understanding the genetic causes of male infertility is important to inform patients about both treatment approaches and the risks their future babies may bear. Abstract Genetic evaluation in the male infertility About 50% of cases with infertility is due to a male factor problem. In this review, it was evaluated the genetic disorders, which are caused by male infertility. Because of the frequency of genetic abnormality in patients with azoospermia and levels of 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
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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