{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:29:18Z","timestamp":1790616558604,"version":"4.1.0"},"reference-count":225,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T00:00:00Z","timestamp":1579564800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Nonobstructive 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.<\/jats:p>","DOI":"10.3390\/jcm9020300","type":"journal-article","created":{"date-parts":[[2020,1,24]],"date-time":"2020-01-24T11:01:00Z","timestamp":1579863660000},"page":"300","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":83,"title":["Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic"],"prefix":"10.3390","volume":"9","author":[{"given":"Miriam","family":"Cerv\u00e1n-Mart\u00edn","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda, Universidad de Granada, Centro de Investigaci\u00f3n Biom\u00e9dica (CIBM), Parque Tecnol\u00f3gico Ciencias de la Salud, Av. del Conocimiento, s\/n, 18016 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA, Av. de Madrid, 15, Pabell\u00f3n de Consultas Externas 2, 2\u00aa Planta, 18012 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A.","family":"Castilla","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA, Av. de Madrid, 15, Pabell\u00f3n de Consultas Externas 2, 2\u00aa Planta, 18012 Granada, Spain"},{"name":"Unidad de Reproducci\u00f3n, UGC Obstetricia y Ginecolog\u00eda, HU Virgen de las Nieves, Av. de las Fuerzas Armadas 2, 18014 Granada, Spain"},{"name":"CEIFER Biobanco\u2014NextClinics, Calle Maestro Bret\u00f3n 1, 18004 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3507-343X","authenticated-orcid":false,"given":"Rogelio J.","family":"Palomino-Morales","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA, Av. de Madrid, 15, Pabell\u00f3n de Consultas Externas 2, 2\u00aa Planta, 18012 Granada, Spain"},{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular I, Universidad de Granada, Facultad de Ciencias, Av. de Fuente Nueva s\/n, 18071 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1427-7639","authenticated-orcid":false,"given":"F. David","family":"Carmona","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda, Universidad de Granada, Centro de Investigaci\u00f3n Biom\u00e9dica (CIBM), Parque Tecnol\u00f3gico Ciencias de la Salud, Av. del Conocimiento, s\/n, 18016 Granada, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs.GRANADA, Av. de Madrid, 15, Pabell\u00f3n de Consultas Externas 2, 2\u00aa Planta, 18012 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Mascarenhas, M.N., Flaxman, S.R., Boerma, T., Vanderpoel, S., and Stevens, G.A. (2012). National, regional, and global trends in infertility prevalence since 1990: A systematic analysis of 277 health surveys. 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