Determination of Y Chromosome Microdeletions in Infertile Men at The Cukurova Region in Turkey

Year 2013, Volume: 38 Issue: 4, 723 - 733, 01.12.2013

Safiye Taga Hulya Leventerler Abdullah Tuli İbrahim Ferhat Ürünsak İbrahim Atilla Arıdoğan Nesrin Ercelen Suna Solmaz Mehmet Turan Çetin Nurten Dikmen

Abstract

Purpose:Y Chromosome infertility is inherited in a Y-linked manner. Three different regions have been mapped on the long arm of the Y chromosome, named ""Azoospermic Factor"" (AZFa, AZFb and AZFc) are involved in the control of spermatogenesis. Microdeletions in these gene loci may result in azoospermia or severe oligozoospermia. The aim of this study is to establish the prevalence of Y chromosomal microdeletions in infertile men at the Cukurova Region in Turkey. Material and Methods: We evaluated the frequency of Y chromosome deletions in 63 infertile men (38 azoospermic and 25 severe oligozoospermic) and 10 fertile men as a control group by using multiplex polymerase chain reaction (PCR) analyis. Plasma hormone concentrations of all patients including FSH, LH, testosterone, prolactin and leptin were measured by radioimmunoassay Results: Microdeletion frequency detected in all cases was 6.3% (4/63). The values for azoospermic group and severe oligozoospermic group were 7.8% (3/38) and 4% (1/25) respectively. Deletions were found at AZFb, AZFc and proximal AZFc/d regions in infertile group. However, no microdeletions were detected at the AZFa region. No deletions were found in the control group. FSH and LH levels were significantly elevated in azoospermic group than control and severe oligozoospermic groups (p:0.000). Prolactin levels were significantly elevated in azoospermic group than control group (p:0.000). Conclusion:Detection of Y Chromosome deletions in infertile males in routine clinical diagnosis may suitable for counseling prior to assisted reproduction.

Keywords

Y chromosome microdeletions, male infertility, AZF genes, PCR

Turkiye"nin Çukurova Bölgesinde İnfertil Erkeklerde Y Kromozom Mikrodelesyonlarının Saptanması

Abstract

Amaç: Y kromozomuna bağlı infertilite Y-bağlı kalıtım gösterir. Y kromozomunun uzun kolunda, spermatogenezden sorumlu ""Azospermik Faktör"" olarak anılan, AZFa, AZFb ve AZFc şeklinde üç farklı bölge tanımlanmıştır. Bu bölgelerin delesyonu azospermi ya da şiddetli oligospermi ile sonuçlanabilmektedir. Bu çalışmanın amacı, Türkiye"nin Çukurova Bölgesi"ndeki infertil erkeklerde Y kromozom mikrodelesyon sıklığının saptanmasıdır. Materyal ve Metod: Çalışmada, 63 infertil erkekte (38 azospermik, 25 şiddetli oligospermik) ve 10 fertil kontrol grubunda Y kromozom mikrodelesyonu multipleks PCR yöntemi ile araştırılmıştır. Tüm olguların plazma FSH, LH, testosteron, prolaktin ve leptin düzeyleri "radiyoimmünoassay" yöntemiyle çalışılmıştır. Bulgular: Mikrodelesyon görülme sıklığı tüm olgularda %6,3 (4/63) iken, azospermik grupta %7,8 (3/38), şiddetli oligospermik grupta %4 (1/25) bulunmuştur. İnfertil grupta, AZFb, AZFc ve proksimal AZFc/d bölgelerinde mikrodelesyon saptanırken AZFa bölgesinde delesyon saptanmamıştır. Kontrol grubunda delesyon görülmemiştir. Azospermik grupta FSH ve LH düzeyleri şiddetli oligospermik ve kontrol gruplarına göre anlamlı derecede yüksek bulunmuştur (p.0000). Azospermik grupta prolaktin düzeyi kontrol grubuna göre yüksek saptanmıştır (p:000). Sonuç: İnfertil erkeklerin rutin klinik tanısında, Y kromozom mikrodelesyonlarının tayini, yardımcı üreme yöntemlerinden önce danışmanlık amaçlı kullanılabilir.

Keywords

Y kromozom mikrodelesyonları, erkek infertilitesi, AZF genleri, PCR

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• Yazışma Adresi / Address for Correspondence: Uz. Safiye Taga Cukurova Faculty of Medicine, Gynecology and Obstetric Department-Center of Assisted Reproduction 01330 Balcalı-ADANA e-mail: [e-mail] geliş tarihi/received :11.04.2013 kabul tarihi/accepted:17.05.2013