İNFERTİL ERKEKLERDE KROMOZOMAL ANOMALİ VE POLİMORFİZM SONUÇLARI: RETROSPEKTİF BİR ÇALIŞMA

Öz

Reprodüktif çağdaki evli çiftlerin % 15’ inde infertilite çok önemli bir problemdir. İnfertilite %30-50 oranında erkek faktörüne bağlıdır. İnfertil erkek hastalarda kromozom anomalisi görülme oranı ortalama %5’tir. Bu oran azospermisi ya da ciddi oligospermisi olan hastalarda %14’ün üzerindedir. Bu hastalarda en sık seks kromozomlarının anomalilerine rastlanılmaktadır. Klinefelter sendromu en sık rastlanan seks kromozom bozukluğudur. Kromozom analizlerinde saptanan kromozomal polimorfizmler normal karyotipik varyasyonlar olarak kabul edilmektedir ve bu kromozomal polimorfizmlerin infertilite ile ilgisi olabileceğine ilişkin çalışmalar mevcuttur. En sık 1, 9, 16, Y ayrıca 13, 14, 15, 21, 22 numaralı kromozomlara ait polimorfizmlere rastlanılmaktadır. Çalışma grubumuz infertilite problemi olan 151 erkek hastadan oluşmuştur. Tüm olguların sitogenetik analizi sonucunda 105 olguda normal kromozom kuruluşu, 33 olguda kromozomal anomali ve 13 olguda farklı kromozomal polimorfizmler saptanmıştır

Anahtar Kelimeler

• İnfertilite,kromozomal anomali,polimorfizm

RESULTS OF CHROMOSOMAL ABNORMALITIES AND POLIMORPHISMS IN INFERTILE MEN: A RETROSPECTIVE STUDY

Abstract

Infertility is a significant problem, affecting up to 15% of married couples of reproductive age. 30–50% of infertility is caused by a male factor. The incidence of chromosomal abnormalities in infertile men is 5% as average. This rate is higher than 14% for the patients with azoospermia or severe oligospermia.The sex chromosome abnormalities are the most common abnormalities in these patients. Klinefelter syndrome is the most frequent sex chromosome abnormality. Chromosomal polymorphisms that determined in chromosomal analysis are considered as normal karyotypic variants and there are studies on chromosomal polymorphisms might be associated with infertility. The most frequently, chromosomal polymorphisms are belong to 1, 9, 16, Y and also 13, 14, 15, 21, chromosomes. Our study group has consisted of 151 infertile male patients. Normal karyotype, chromosomal abnormality and different chromosomal polymorphisms have been determined in 105, 33 and 13 cases respectively as the result of cytogenetic analysis on all cases

Keywords

• İnfertility,chrosomal abnormality,polymorphism

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