Modern opportunities and indications for genetic diagnosis of male infertility

Evere forms of male and female infertility, recurrent miscarriage, abnormalities in disorders of sex development are often due to genetic causes or are associated with genetic factors. Genetic examination and counseling of patients with reproductive problems is often limited to the use of standard routine techniques, therefore, it is not possible to identify many hereditary forms of reproductive pathology. Genomic analysis methods can improve the diagnosis of genetic reproductive disorders caused by gene mutations and copy number variations (CNVs), but they are not yet widely used in practical medicine. The article discusses the modern possibilities of medical-genetic examination of infertile men with, as well as the indications and diagnostic algorithms for the genetic causes of male infertility associated with various forms of pathozoospermia.

мужское бесплодие, генные варианты, патозооспермия, хромосомные аномалии, флуоресцентная гибридизация in situ, хромосомный микроматричный анализ, секвенирование экзома, AZF, CFTR, male infertility, gene variants, spermatogenesis, chromosome abnormalities, fluorescence in situ hybridization, array comparative genomic hybridization, exome sequencing, AZF, CFTR