Epidemiology of Genetic Disorders in Male Infertility

Abstract

Infertility has become a major social concern, with high demand for treatment. Due to the high prevalence of genetic abnormalities among men suffering from infertility with severe oligozoospermia and azoospermia, cytogenetic testing is highly warranted. These tests can diagnose some, but not all, of the causes of poor reproductive potential in men. Unfortunately, these genetic tests are considered a monetary burden to some patients. As a result, these patients are deprived of the proper diagnosis and treatment for their infertility problems. In addition, these genetic tests are not readily available in centres, especially in developing countries, and are not covered by insurance. Genetic diagnoses are valuable for the determination of the prognosis, decisions regarding treatment options and management for both the male partner and the couple as a whole. Inadequate evaluation of the genetic causes of male infertility may affect management due to a lack of proper counselling and the suboptimal prevention of vertical transmission of genetic defects during assisted reproductive technologies. Despite recent advances in technology and diagnostic examinations, many men do not have identifiable causes of their infertility. The epidemiology of male infertility is difficult to study for several reasons. There are considerable variations in the frequency of male infertility and its aetiologies worldwide, and its nature has been poorly studied in heterogeneous data. Knowing the global epidemiology of different causes of infertility is fundamental for the effective delivery of care to these affected individuals. Only a handful of large-scale studies have addressed the epidemiology of genetic aetiologies of male infertility, and the published data are littered with significant shortcomings. Further high-quality methodological studies are needed to establish the true epidemiology of each genetic cause of male infertility. A deep understanding of all the aspects of the genetic conditions causing male infertility is needed in order to offer infertile couples the most appropriate treatment for their disorders.