Türk popülasyonunda oligozoospermi ve azospermi hastalarında infertilitenin genetik nedenleri

Abstract

Amaç: Genetik bilimindeki ilerlemeler ve yardımcı üreme tekniklerindeki gelişmeler, infertilitenin genetik nedenlerine odaklanmamızı sağlamaktadır. Bu çalışmada, sex kromozomu anöploidisi ve Y kromozom mikrodelesyonları açısından genetik anormallikleriaraştırmayı amaçladık.

Gereç ve Yöntemler: Azospermi veya şiddetli oligozoospermi (≤ 5 milyon spermatozoa/ml) olan toplam 350 hasta analiz edildi. Hastalar genel muayene ve laboratuvar değerlendirmesi sonrası, karyotip ve Y kromozom mikrodelesyonu açısından değerlendirildi.

Bulgular: Non-obstrüktif azospermi (NOA) olan toplam 225 infertil erkek ve oligozoospermi olan 125 infertil erkek çalışmaya dahil edildi. Genel sitogenetik anomali oranı% 16 idi. Üç yüz elli vakanın 32’sinde (% 9,1) kromozom değişiklikleri tespit edildi. En sık görülen genetik anomali 47, XXY (Klinefelter sendromu KS) idi ve insidansı NOA grubunda % 11.5 ve oligozoospermi grubunda % 3,2 idi. Y kromozom mikrodelesyonu 24 (% 6.8) hastada tespit edildi ve benzer şekilde NOA grubunda oligozoospermi grubuna göre daha sık görüldü (% 9.3 vs % 2.4, sırasıyla).

Sonuç: İnfertilitenin şiddeti ile birlikte genetik nedenlerin görülme sıklığı artmaktadır. Sonuç olarak, yardımcı üreme tekniklerinin kullanılmasından önce genetik tarama ve uygun genetik danışmanlığa ihtiyaç duyulmaktadır.

Keywords

• azospermi
• kromozom
• infertilite
• mikrodelesyon
• oligoozospermi

The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population

Abstract

Objective: Advances in the science of genetics and the development of assisted reproductive techniques focus on the genetic causes of infertility. The aim of this research is to reveal genetic abnormalities in terms of sex chromosome aneuploidy and Y chromosome microdeletions.

Material and Methods: A total of 350 patients with azoospermia or severe oligozoospermia were selected. After general examination of the patients and laboratory investigations were performed, cartoypes and Y chromosome microdeletions were examined.

Results: A total of 225 infertile men with non-obstructive azoospermia (NOA) and 125 infertile men with oligozoospermia were enrolled into the study. The overall cytogenetic anomaly rate was 16%. Chromosomal changes were detected in 32 of 350 (9.1%) cases. The most common genetic anomaly was 47, XXY (Klinefelter syndrome) and the incidence was 11.5% in NOA group. This rate was 3.2% in oligozoospermia group. Y chromosome microdeletions were detected in 24 (6.8%) patients and similarly, it was observed more frequently in the NOA group than in the oligozoospermia group.

Conclusion: The incidence of genetic causes have been increasing with the severity of infertility. As a result, genetic screening and appropriate genetic counseling are needed before the use of assisted reproductive techniques.

Keywords

• azospermia
• chromosome
• infertility
• microdeletion
• oligozoospermia

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