İnfertil erkek hastalarda karyotip analizi ve Y kromozom mikrodelesyon analiz sonuçları

Abstract

Amaç: İnfertilite çiftlerin %15’inde görülen bir problemdir. Oligozoospermi ve azoospermi kaynaklı erkek infertilitesi tanısı alanların %30’unun etiyolojisinde genetik nedenler sorumludur. Bu retrospektif çalışmada, merkezimize başvuran infertil erkeklerde yardımcı üreme teknikleri uygulanmadan önce hem kromozomal yapının belirlenmesi hem de Y kromozomu üzerindeki azoospermik faktör (AZF) bölgesinin mikrodelesyonunun belirlenmesi amaçlanmıştır. Gereç ve Yöntem: Laboratuvarımıza rutin analizler için başvuran 675 hasta çalışıldı. Bu hastalardan konvansiyonel sitogenetik yöntemle periferik kandan kromozom analizi yapıldı ve Y kromozom mikrodelesyon belirleme kiti kullanılarak fragman analizi yöntemi ile Y kromozomu mikrodelesyonu araştırıldı. Bulgular: 675 hastanın 75’inde sitogenetik ve 21’inde moleküler, 2’sinde hem sitogenetik hem moleküler düzeyde anomali belirlendi. Anomalili karyotipe sahip hastalarda sayısal ve yapısal (resiprokal ve robertsonian tip translokasyon, inversiyon, ring kromozom gibi) anomaliler saptandı. Y mikrodelesyon belirlenen hastaların 2’sinde AZFa, 1 hastada AZFb, 13 hastada AZFc/d (c+ proksimal c), 6 hastada AZFb/c/d, 1 hastada AZFc/d ve kısmi AZFa bölgelerinde mikrodelesyon saptandı. Sonuç: Çalışmamız kromozom anomalilerinin ve Y kromozomu mikrodelesyonunun erkek infertilitesinin önemli bir nedeni olduğunu ve bu nedenle infertil hastalarda, kromozom analizi ve Y kromozomu mikrodelesyon testlerinin yapılmasının, erkek kaynaklı infertilitenin açıklanmasında gerekliliğini göstermektedir.

Keywords

• Erkek infertilitesi
• kromozomal anomali
• Y kromozom mikrodelesyonu

Karyotype analysis and Y chromosome microdeletion analysis results in infertile male patients

Abstract

Purpose: Infertility is a problem seen in 15% of couples. Genetic causes are responsible for the etiology of 30% of those diagnosed with male infertility due to oligozoospermia and azoospermia. In this retrospective study, it was aimed to determine both the chromosomal structure and the microdeletion of the azoospermic factor (AZF) region on the Y chromosome before the application of assisted reproductive techniques in infertile men admitted to our center.
Materials and methods: 675 patients who applied to our laboratory for routine analyzes were studied. Chromosome analysis from peripheral blood was performed from these patients with conventional cytogenetic method and Y chromosome microdeletion was investigated by fragment analysis method using Y chromosome microdeletion detection kit.
Results: Of 675 patients, 75 had cytogenetic anomalies, 21 had molecular anomalies, and 2 had both cytogenetic and molecular anomalies. Numerical and structural anomalies (such as reciprocal and robertsonian type translocation, inversion, ring chromosome) were detected in patients with anomaly karyotype. Microdeletion was detected in AZFa in 2 patients, AZFb in 1 patient, AZFc/d (c+ proximal c) in 13 patients, AZFb/c/d in 6 patients, and AZFc/d+ partial AZFa in 1 patient.
Conclusion: Our study shows that chromosomal abnormalities and Y chromosome microdeletion are important causes of male infertility, and therefore, chromosome analysis and Y chromosome microdeletion tests are necessary to explain male infertility in infertile patients.

Keywords

• Male infertility
• chromosomal abnormality
• Ychromosome microdeletion

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