{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:19:09Z","timestamp":1790651949150,"version":"4.1.0"},"reference-count":63,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (MRKH) syndrome encompasses a range of M\u00fcllerian duct anomalies characterized by congenital absence of the uterus and the upper two-thirds of the vagina in young women who otherwise exhibit normal endocrine function and a 46,XX karyotype. MRKH syndrome can occur in an isolated form (type I) or in association with other congenital anomalies (type II or MURCS association), which may include renal, vertebral, auditory, and cardiac defects. It represents one of the most frequent causes of primary amenorrhea, affecting approximately 1 in every 4000\u20135000 women. MRKH syndrome often remains undiagnosed until a patient presents with primary amenorrhea, despite normal development of secondary sexual characteristics. Both genetic and non-genetic factors have been proposed as contributing to abnormal embryonic development, although the exact etiopathogenesis remains unclear. Imaging plays a key role in the evaluation of genital tract anomalies, allowing non-invasive and comprehensive assessment. Alongside physical examination and pelvic ultrasound, pelvic MRI is essential for identifying the presence of rudimentary uterine tissue. MRKH syndrome can have profound and lasting psychological impacts, making it essential for patients and their families to receive counseling both before and throughout treatment. A range of therapeutic options\u2014both surgical and non-surgical\u2014have been proposed for managing MRKH syndrome. Vaginal dilation remains the first-line treatment, as it offers high success rates with minimal risk of complications. Vaginoplasty is considered a second-line option for patients who do not respond to dilation therapy. Additionally, uterine transplantation and gestational surrogacy provide opportunities for women with MRKH syndrome to achieve biological motherhood. This review provides an updated overview of Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (MRKH) syndrome, encompassing its etiological, clinical, diagnostic, psychological, therapeutic, and reproductive aspects. We also present a case involving a 19-year-old woman with MRKH syndrome who presented with primary amenorrhea, highlighting the crucial role and advantages of MRI in diagnosis, differential assessment, and treatment planning.<\/jats:p>","DOI":"10.3390\/diagnostics16010138","type":"journal-article","created":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T09:18:56Z","timestamp":1767345536000},"page":"138","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser Syndrome: From Radiological Diagnosis to Further Challenges\u2014Review and Update"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4708-0178","authenticated-orcid":false,"given":"Calin","family":"Schiau","sequence":"first","affiliation":[{"name":"Department of Radiology and Medical Imaging, Faculty of Medicine, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Department of Radiology, Emergency Clinical County Hospital Cluj-Napoca, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Csaba","family":"Csutak","sequence":"additional","affiliation":[{"name":"Department of Radiology and Medical Imaging, Faculty of Medicine, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Department of Radiology, Emergency Clinical County Hospital Cluj-Napoca, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9685-0904","authenticated-orcid":false,"given":"Anca Ileana","family":"Ciurea","sequence":"additional","affiliation":[{"name":"Department of Radiology and Medical Imaging, Faculty of Medicine, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Department of Radiology, Emergency Clinical County Hospital Cluj-Napoca, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2222-3219","authenticated-orcid":false,"given":"Roxana","family":"Pintican","sequence":"additional","affiliation":[{"name":"Department of Radiology and Medical Imaging, Faculty of Medicine, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Department of Radiology, \u201cProf. Dr. Ion Chiricuta\u201d Institute of Oncology, 400015 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9182-0116","authenticated-orcid":false,"given":"Ioana-Teofana","family":"Dulgheriu","sequence":"additional","affiliation":[{"name":"Department of Radiology and Medical Imaging, Faculty of Medicine, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Department of Radiology, Emergency Clinical County Hospital Cluj-Napoca, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8492-5777","authenticated-orcid":false,"given":"Simona","family":"Manole","sequence":"additional","affiliation":[{"name":"Department of Radiology and Medical Imaging, Faculty of Medicine, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Department of Radiology, \u201cNiculae Stancioiu\u201d Heart Institute, 400001 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1093\/humrep\/dei381","article-title":"Clinical aspects of MRKH syndrome: Recommendations for clinical diagnosis and staging","volume":"21","author":"Oppelt","year":"2006","journal-title":"Hum. 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