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A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer–Rokitansky–Küster–Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5
- Title
- A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer–Rokitansky–Küster–Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5
- Authors
- Lee; Rosie; Choi; Jung Eun; Mun; Eunji; Kim; Kyung hee; Sun Ah; Hae Soon
- Ewha Authors
- 김경희; 김혜순; 최선아; 최정은
- SCOPUS Author ID
- 김경희
; 김혜순
; 최선아
; 최정은![scopus](/images/layout/icon2.png)
- Issue Date
- 2024
- Journal Title
- Children
- ISSN
- 2227-9067
- Citation
- Children vol. 11, no. 4
- Keywords
- chromosome 17q12 deletion syndrome; maturity-onset diabetes of the young; mullerian aplasia
- Indexed
- SCIE; SCOPUS
![scopus](/images/layout/scopus2.gif)
- Document Type
- Article
- Abstract
- Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4–1.5 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–Rokitansky–Küster–Hauser (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. © 2024 by the authors.
- DOI
- 10.3390/children11040404
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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