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The father has no other clinical concerns apart from infertility, detected after many attempts of having another child, but given his urological situation (bilateral varicocele and NOA) assisted reproductive techniques were discouraged. After genetic counseling, several genetic-chromosomal analyses were carried out in the son (karyotype, chromosome Y microdeletions, <jats:italic>CFTR<\/jats:italic> screening, NGS infertility panels, and finally array-CGH).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>After a series of inconclusive tests, array-CGH detected a deletion of 224\u2013283\u00a0kb (del9p24.3) involving part of the <jats:italic>KANK1<\/jats:italic> and <jats:italic>DMRT1<\/jats:italic> genes, inherited from the father. Haploinsufficiency of <jats:italic>DMRT1<\/jats:italic> was therefore considered the determining factor in the development of azoospermia in the family by a loss of function mechanism.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The confirmation of father-to-son transmission of a deletion including <jats:italic>DMRT1<\/jats:italic> represents an important point for clinicians dealing with male infertility, even when complete azoospermia is repetitively detected, and must be of hope for a relevant portion of men. Inclusion criteria for the access to assisted reproductive techniques may also be reconsidered and worthy of a greater number of clinical insights. Finally, since <jats:italic>DMRT1<\/jats:italic> alterations have been associated with NOA and abnormal testicular development, but not specifically with varicocele, further studies are required to validate this issue, as varicocele may have played a crucial role in this case.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10815-024-03250-2","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T05:02:47Z","timestamp":1726030967000},"page":"3173-3177","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Familial DMRT1-related non-obstructive azoospermia: a case report"],"prefix":"10.1007","volume":"41","author":[{"given":"Giulia","family":"Severi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Ambrosini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Caramanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Monti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Magini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6909-2412","authenticated-orcid":false,"given":"Giovanni","family":"Innella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,11]]},"reference":[{"issue":"5","key":"3250_CR1","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1093\/humrep\/deh870","volume":"20","author":"C Gnoth","year":"2005","unstructured":"Gnoth C, Godehardt E, Frank-Herrmann P, Friol K, Tigges J, Freundl G. 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