Cerván-Martín, MiriamCastilla, José A.Palomino-Morales, Rogelio J.Carmona, F. David2022-05-112022-05-112020-01-21Cerván-Martín M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic. J Clin Med. 2020 Jan 21;9(2):300http://hdl.handle.net/10668/3625Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility, involving around 1% of the male population and 10% of infertile men. This condition is characterised by the inability of the testis to produce sperm cells, and it is considered to have an important genetic component. During the last two decades, different genetic anomalies, including microdeletions of the Y chromosome, karyotype defects, and missense mutations in genes involved in the reproductive function, have been described as the primary cause of NOA in many infertile men. However, these alterations only explain around 25% of azoospermic cases, with the remaining patients showing an idiopathic origin. Recent studies clearly suggest that the so-called idiopathic NOA has a complex aetiology with a polygenic inheritance, which may alter the spermatogenic process. Although we are far from a complete understanding of the molecular mechanisms underlying NOA, the use of the new technologies for genetic analysis has enabled a considerable increase in knowledge during the last years. In this review, we will provide a comprehensive and updated overview of the genetic basis of NOA, with a special focus on the possible application of the recent insights in clinical practice.enAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/Male infertilityAzoospermiaGenetic componentMutationsSNPsInfertilidad masculinaMutaciónComponentes del genPolimorfismo de nucleótido simpleMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single NucleotideMedical Subject Headings::Diseases::Male Urogenital Diseases::Genital Diseases, Male::Infertility::Infertility, MaleMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene ComponentsMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::MutationMedical Subject Headings::Diseases::Male Urogenital Diseases::Genital Diseases, Male::Infertility::Infertility, Male::AzoospermiaMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Check Tags::MaleMedical Subject Headings::Anatomy::Urogenital System::Genitalia::Genitalia, Male::TestisMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Mutation, MissenseMedical Subject Headings::Anatomy::Urogenital System::Genitalia::Germ Cells::Spermatozoareview article31973052open access10.3390/jcm90203002077-0383PMC7074441