{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T05:45:58Z","timestamp":1775022358090,"version":"3.50.1"},"reference-count":7,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,12,20]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>We present a rare case of an unmarried woman in her mid-twenties with primary amenorrhoea who was found to have the unusual coexistence of mosaic Turner syndrome (45, XO\/46, XX) and Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser syndrome with MURCS association (M\u00fcllerian agenesis, Renal anomalies, Cervicothoracic Somite dysplasia). The patient exhibited normal secondary sexual characteristics and was phenotypically female. The patient underwent successful laparoscopic Davydov vaginoplasty in anticipation of marriage. This case highlights the diagnostic complexity and management challenges associated with dual congenital anomalies that affect both gonadal and M\u00fcllerian development.<\/jats:p>","DOI":"10.1136\/bcr-2025-267760","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T12:45:55Z","timestamp":1767789955000},"page":"e267760","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association)"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3400-8161","authenticated-orcid":false,"given":"Sudwita","family":"Sinha","sequence":"first","affiliation":[{"name":"Obstetrics and Gynaecology, AIIMS Patna, Patna, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Puja","family":"Vidushi","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology, AIIMS Patna, Patna, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mukta","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology, AIIMS Patna, Patna, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Upasna","family":"Sinha","sequence":"additional","affiliation":[{"name":"Radio Diagnosis, AIIMS Patna, Patna, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"key":"2026010704455333000_19.1.e267760.1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s13048-022-01067-0","article-title":"An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia\u2013 case report and review of literature","volume":"16","author":"Mahey","year":"2023","journal-title":"J Ovarian Res"},{"key":"2026010704455333000_19.1.e267760.2","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2015-212634","article-title":"Unusual association of Turner syndrome and Mayer-Rokitansky-K\u00fcster-Hauser syndrome","volume":"2016","author":"Meena","year":"2016","journal-title":"BMJ Case Rep"},{"key":"2026010704455333000_19.1.e267760.3","doi-asserted-by":"crossref","first-page":"672","DOI":"10.4103\/njcp.njcp_274_24","article-title":"Unusual Association of 46XY\/45XO Mosaic Turner Syndrome and Mullerian Agenesis","volume":"28","author":"Ibekwe","year":"2025","journal-title":"Niger J Clin Pract"},{"key":"2026010704455333000_19.1.e267760.4","doi-asserted-by":"crossref","first-page":"318","DOI":"10.4103\/jhrs.jhrs_110_22","article-title":"A Rare Case of Mosaic Ring Turner Syndrome with Horseshoe Kidney","volume":"15","author":"Pritti","year":"2022","journal-title":"J Hum Reprod Sci"},{"key":"2026010704455333000_19.1.e267760.5","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1093\/humrep\/dez126","article-title":"Whole-exome sequencing identifies a GREB1L variant in a three-generation family with M\u00fcllerian and renal agenesis: a novel candidate gene in Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (MRKH) syndrome. A case report","volume":"34","author":"Herlin","year":"2019","journal-title":"Hum Reprod"},{"key":"2026010704455333000_19.1.e267760.6","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.jpag.2020.05.008","article-title":"Mayer-Rokitansky-K\u00fcster-Hauser Syndrome with a Solitary Duplex Kidney and Anal Stenosis: Report of a Rare Case","volume":"34","author":"Bi","year":"2021","journal-title":"J Pediatr Adolesc Gynecol"},{"key":"2026010704455333000_19.1.e267760.7","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.crad.2022.09.119","article-title":"MRI presentations of M\u00fcllerian duct anomalies in association with unilateral renal agenesis","volume":"78","author":"Zhang","year":"2023","journal-title":"Clin Radiol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267760","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T12:45:57Z","timestamp":1767789957000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267760"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,7]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/bcr-2025-267760"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267760","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]}}}