17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5

The Journal of Clinical Endocrinology and Metabolism
Natascha RoehlenKatharina Laubner

Abstract

Maturity-onset diabetes of the young type 5 (MODY5) is caused by mutations of the hepatocyte nuclear factor 1 homeobox β gene (HNF1B). Although clinical characteristics and therapeutic management of MODY5 are increasingly better defined, adequate consideration of the frequent association of MODY5 with 17q12 deletion syndrome is often missing. We report two cases of patients with 17q12 deletion syndrome who presented to our clinic. Furthermore, we reviewed the existing literature to improve systematic diagnostic and therapeutic approaches. A PubMed search using the terms 17q12 deletion syndrome, diabetes mellitus type MODY5, and/or HNF1B was performed. Three hundred sixty-one cases of postnatal 17q12 deletion syndrome were assessed, and details on clinical manifestations, diagnostic approaches, and therapeutic management were reviewed and compared with the two cases at our clinic. Furthermore, data on pathogenic mechanisms and their clinical implications were evaluated. The 17q12 deletion syndrome usually comprises MODY5, structural or functional abnormalities of the kidneys, and neurodevelopmental or neuropsychiatric disorders. A complete deletion of HNF1B can be found in about 50% of patients with MODY5. A wide variety of addi...Continue Reading

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Citations

Sep 7, 2019·Nature Reviews. Disease Primers·Olivier DevuystAnthony J Bleyer
Sep 29, 2020·AACE Clinical Case Reports·Carmen BustamanteSupamit Ukarapong
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Jul 17, 2021·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·Daniel ShiDavid Meyre
Jan 19, 2022·Journal of Investigative Medicine High Impact Case Reports·Clara Si Hua TanSu Chi Lim

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