Current Approach to Genetic Causes of Female Infertility and Genetic Counseling

Abstract

Infertility is a disease of the male or female reproductive system and is defined as the inability to achieve pregnancy after 12 months or more of regular and unprotected sexual intercourse. Data shows that more than 186 million people worldwide are infertile. About 10% of the women of reproductive age are unable to conceive or maintain a pregnancy. In this study, the causes of female infertility were reviewed under several headings and the importance of genetic counseling in infertility was also mentioned. There are many different causes of female infertility, including both genetic and non-genetic causes. In this review, current developments and approaches in the genetic etiology of female infertility were reviewed under six main headings, chromosomal abnormalities, female genital system disorders, hypogonadotropic hypogonadism, primary ovarian failure, polycystic ovary syndrome, and gonadal dysgenesis. Also, the role of genetic counseling in these diseases was discussed. The aim of genetic counseling is to inform people with a hereditary disease or at high risk of carrying it about the course of the disease and treatment methods, and also to guide future generations and family members about their risks. After all tests and examinations, genetic counseling has a very important place in reproductive health.

Keywords

• Female
• genetics
• infertility
• genetic counseling

Kadın İnfertilitesinin Genetik Nedenlerine Güncel Yaklaşım ve Genetik Danışmanlık

Abstract

İnfertilite, erkek veya kadın üreme sisteminin bir hastalığı olup, 12 ay veya daha uzun süre düzenli ve korunmasız cinsel ilişkiden sonra gebelik elde edilememesi olarak tanımlanır. Veriler, dünya çapında 186 milyondan fazla insanın infertil olduğunu göstermektedir. Üreme çağındaki kadınların yaklaşık %10'u gebe kalamaz veya hamileliğini sürdüremez. Bu çalışmada kadın infertilitesinin nedenleri çeşitli başlıklar altında incelenmiş ve ayrıca infertilitede genetik danışmanlığın önemine de değinilmiştir. Kadın infertilitesinin hem genetik ve hem de genetik olmayan nedenler de dahil olmak üzere birçok farklı nedeni vardır. Bu derlemede kadın infertilitesinin genetik etiyolojisindeki güncel gelişmeler ve yaklaşımlar, kromozom anomalileri, kadın genital sistem bozuklukları, hipogonadotropik hipogonadizm, primer over yetmezliği, polikistik over sendromu ve gonadal disgenezi olmak üzere altı ana başlık altında incelenmiştir. Ayrıca bu hastalıklarda genetik danışmanlığın rolü de tartışılmıştır. Genetik danışmanlığın amacı, kalıtsal bir hastalığı olan veya taşıyıcı olma riski yüksek olan kişileri hastalığın seyri ve tedavi yöntemleri hakkında bilgilendirmek, aynı zamanda gelecek nesillere ve aile bireylerine de riskleri konusunda rehberlik etmektir. Tüm test ve tetkiklerden sonra, üreme sağlığında genetik danışmanlık çok önemli bir yere sahiptir.

Keywords

• Kadın
• genetik
• infertilite
• genetik danışmanlık

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