Current Approach to Genetic Causes of Male Infertility and Genetic Counseling

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.