{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T15:45:36Z","timestamp":1778600736459,"version":"3.51.4"},"reference-count":32,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4\u20131.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5 (MODY5), and Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (MRKH) syndrome. We present the case of a 14-year-old Korean female diagnosed with chromosome 17q12 deletion syndrome, confirmed by chromosomal microarray analysis. The patient exhibited MODY5 with pancreatic agenesis, MRKH syndrome, dysmorphic facial features, developmental delay, kidney rotation anomaly, portal vein thrombosis with liver hypoplasia, short stature, and scoliosis. Management involved the initiation of multiple daily insulin injections for diabetes control, gynecological evaluation for MRKH syndrome, and multidisciplinary care for associated complications. This case highlights the complexity and varied organ involvement in chromosome 17q12 deletion syndrome. A comprehensive and multidisciplinary approach is crucial for the management of affected individuals, including regular monitoring, tailored interventions across various medical specialties, and providing psychosocial support.<\/jats:p>","DOI":"10.3390\/children11040404","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T12:52:12Z","timestamp":1711630332000},"page":"404","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5"],"prefix":"10.3390","volume":"11","author":[{"given":"Rosie","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Keimyung University Dongsan Hospital, Daegu 42601, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Eun","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ewha Womans University College of Medicine, Seoul 07804, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eunji","family":"Mun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ewha Womans University College of Medicine, Seoul 07804, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung hee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ewha Womans University College of Medicine, Seoul 07804, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun Ah","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ewha Womans University College of Medicine, Seoul 07804, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hae Soon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ewha Womans University College of Medicine, Seoul 07804, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1681\/ASN.2015050544","article-title":"Hepatocyte Nuclear Factor 1\u03b2-Associated Kidney Disease: More than Renal Cysts and Diabetes","volume":"27","author":"Verhave","year":"2016","journal-title":"J. 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