{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:52:58Z","timestamp":1790801578195,"version":"4.1.0"},"reference-count":67,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T00:00:00Z","timestamp":1635120000000},"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>Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve M\u00fcllerian aplasia, also known as Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of M\u00fcllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5\u03b1-reductase type 2 deficiency, 17\u03b2-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.<\/jats:p>","DOI":"10.3390\/ijms222111495","type":"journal-article","created":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T21:40:21Z","timestamp":1635198021000},"page":"11495","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0218-6841","authenticated-orcid":false,"given":"Karina","family":"Kapczuk","sequence":"first","affiliation":[{"name":"Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, 60-535 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Witold","family":"K\u0119dzia","sequence":"additional","affiliation":[{"name":"Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, 60-535 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/s10397-013-0800-x","article-title":"The ESHRE\u2013ESGE consensus on the classification of female genital tract congenital anomalies","volume":"10","author":"Grimbizis","year":"2013","journal-title":"Gynecol. 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