Current Approach to Genetic Causes of Male Infertility and Genetic Counseling

Year 2022, , 7 - 16, 30.10.2022

Muhammed Burak Bereketoğlu , Rashad Abdullayev , Sevcan Tuğ Bozdoğan

https://doi.org/10.18678/dtfd.1183283

Abstract

Generally, infertility is defined as the inability of couples who have had unprotected and regular intercourse for at least 12 months or longer to conceive naturally. When all societies in the world are examined, infertility is an important health problem affecting approximately 48 million couples, and it also has socio-cultural, economic, and psychological effects. While 8-12% of reproductive age couples have infertility problems, when gender-related reasons are examined, 20-30% of these reasons are male, 20-30% are female, and 25-40% are together with couples. While the etiology of 60% of male infertility causes has not been clarified yet, congenital urogenital anomalies are the most common causes, and genetic causes are the second most common cause among the known causes. While investigating genetic etiology in patients, chromosomal anomalies and Y microdeletions are at the forefront; however, the importance of monogenic causes has increased as some known genes have been associated with infertility because of familial segregation studies and the whole exome analyses with the development of new generation sequencing technologies. In this review, genetic causes of male infertility, diagnosis, and treatment approaches for genetic causes were examined by the current literature, and the importance of providing the proper genetic counseling to infertility patients was mentioned.

Keywords

Genetics, male, infertility, genetic counseling

Erkek İnfertilitesinin Genetik Nedenlerine Güncel Yaklaşım ve Genetik Danışmanlık

Abstract

Genel olarak infertilite, en az 12 ay veya daha uzun süre korunmasız ve düzenli cinsel ilişki yaşayan çiftlerin doğal yollarla gebe kalamaması olarak tanımlanmaktadır. Dünyadaki tüm toplumlar incelendiğinde, infertilite yaklaşık olarak 48 milyon çifti etkileyen önemli bir sağlık sorunu olmanın yanı sıra, sosyo-kültürel, ekonomik ve psikolojik etkileri de bulunmaktadır. Üreme çağındaki çiftlerin %8-12’si infertilite problemi yaşarken, cinsiyete bağlı sebepler incelendiğinde, bu nedenlerin %20-30’unu erkek cinsiyet, %20-30’unu kadın cinsiyet ve %25-40’ını çiftler beraber oluşturmaktadır. Erkek cinsiyet kaynaklı infertilite nedenlerinin %60’ının etiyolojisi henüz aydınlatılmamışken, bilinen nedenler arasında doğumsal ürogenital anomaliler en sık nedenler ve genetik nedenler ise ikinci sıklıktaki nedenlerdir. Hastalarda genetik etiyoloji araştırılırken kromozomal anomalileri ve Y mikrodelesyonları ön planda izlenmektedir, ancak, yeni nesil dizileme teknolojilerinin gelişmesiyle birlikte yapılan ailesel segregasyon çalışmaları ve tüm ekzom analizleri sonucunda bilinen bazı genlerin infertilite ile ilişkilendirilmesiyle monogenik nedenlerin önemi artmıştır. Bu derlemede, erkek infertilitesinin genetik nedenleri, genetik nedenlere yönelik tanı ve tedavi yaklaşımları güncel literatürle uyumlu bir şekilde incelenmiş ve infertilite hastalarına doğru genetik danışmanlığın sağlanmasının öneminden bahsedilmiştir.

Keywords

Genetik, erkek, infertilite, genetik danışmanlık

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