{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T22:16:02Z","timestamp":1768774562850,"version":"3.49.0"},"reference-count":182,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Infertility affects around 1 in 5 couples in the world. Congenital absence of the uterus results in absolute infertility in females. M\u00fcllerian agenesis is the nondevelopment of the uterus. Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (MRKH) syndrome is a condition of uterovaginal agenesis in the presence of normal ovaries and the 46 XX Karyotype. With advancements in reproductive techniques, women with MA having biological offspring is possible. The exact etiology of MA is unknown, although several genes and mechanisms affect the development of M\u00fcllerian ducts. Through this systematic review of the available literature, we searched for the genetic basis of MA. The aims included identification of the genes, chromosomal locations, changes responsible for MA, and fertility options, in order to offer proper management and counseling to these women with MA. A total of 85 studies were identified through searches. Most of the studies identified multiple genes at various locations, although the commonest involved chromosomes 1, 17, and 22. There is also conflicting evidence of the involvement of various candidate genes in the studies. The etiology of MA seems to be multifactorial and complex, involving multiple genes and mechanisms including various mutations and mosaicism.<\/jats:p>","DOI":"10.3390\/ijms25010120","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T03:36:17Z","timestamp":1703129777000},"page":"120","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Molecular Basis of M\u00fcllerian Agenesis Causing Congenital Uterine Factor Infertility\u2014A Systematic Review"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1539-6162","authenticated-orcid":false,"given":"Rajani","family":"Dube","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, RAK College of Medical Sciences, RAK Medical & Health Sciences University, Ras al Khaimah P.O. Box 11172, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9379-7447","authenticated-orcid":false,"given":"Subhranshu Sekhar","family":"Kar","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Neonatology, RAK College of Medical Sciences, RAK Medical & Health Sciences University, Ras al Khaimah P.O. Box 11172, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2336-0872","authenticated-orcid":false,"given":"Malay","family":"Jhancy","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Neonatology, RAK College of Medical Sciences, RAK Medical & Health Sciences University, Ras al Khaimah P.O. Box 11172, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5029-7779","authenticated-orcid":false,"given":"Biji Thomas","family":"George","sequence":"additional","affiliation":[{"name":"Department of General Surgery, RAK College of Medical Sciences, RAK Medical & Health Sciences University, Ras al Khaimah P.O. Box 11172, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,21]]},"reference":[{"key":"ref_1","unstructured":"World Health Organization (WHO) (2018). International Classification of Diseases, WHO. 11th Revision (ICD-11)."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1016\/j.fertnstert.2004.11.033","article-title":"Research on infertility: Which definition should we use?","volume":"83","author":"Larsen","year":"2005","journal-title":"Fertil. 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