{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T19:27:11Z","timestamp":1789500431159,"version":"build-2803163510"},"reference-count":9,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"vor","delay-in-days":22,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Maternally inherited diabetes and deafness (MIDD) syndrome refers to a rarely diagnosed disorder caused by pathogenic variants in mtDNA. It was first identified in 1992 and, to date, is considered underdiagnosed because of misclassification to type 1 or type 2 diabetes mellitus. MIDD reflects a multisystem metabolic syndrome commonly resulting in insulin-requiring diabetes and sensorineural deafness but can also lead to a broad range of other manifestations. The spectrum of pathology differs among individuals, likely because of varied degrees of heteroplasmy associated with mtDNA. Heteroplasmy also creates diagnostic difficulties, with a high index of suspicion required to diagnose MIDD in some cases. Here, we review a patient with MIDD who presented with an atypical clinical diabetes picture, additionally documenting his pedigree. To our knowledge, this is the first Cypriot reported with MIDD.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad047","type":"journal-article","created":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T12:23:49Z","timestamp":1684844629000},"source":"Crossref","is-referenced-by-count":6,"title":["Maternally Inherited Diabetes and Deafness (MIDD) \u2013 Atypical Clinical Diabetes Features Leading to the Diagnosis"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8964-8345","authenticated-orcid":false,"given":"Anna","family":"Kyriakidou","sequence":"first","affiliation":[{"name":"School of Clinical Medicine, University of Cambridge , Cambridge CB2 0SP , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6609-6277","authenticated-orcid":false,"given":"Marilena","family":"Hadjivassiliou","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Genetics and the Laboratory of Forensic Genetics, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 , Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6157-2761","authenticated-orcid":false,"given":"Anastasia","family":"Papapostolou","sequence":"additional","affiliation":[{"name":"Alithias Endocrinology Center , Nicosia 2324 , Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3562-8810","authenticated-orcid":false,"given":"Michalis K","family":"Picolos","sequence":"additional","affiliation":[{"name":"Alithias Endocrinology Center , Nicosia 2324 , Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2023,5,23]]},"reference":[{"issue":"10","key":"2023052312234060300_luad047-B1","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1007\/s00125-007-0779-9","article-title":"Prevalence and progression of diabetes in mitochondrial 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patients","volume":"12","author":"Yang","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"1","key":"2023052312234060300_luad047-B5","doi-asserted-by":"crossref","DOI":"10.1016\/j.jdiacomp.2020.107584","article-title":"Management of mitochondrial diabetes in the era of novel therapies","volume":"35","author":"Yeung","year":"2021","journal-title":"J Diabetes Complicat"},{"issue":"8","key":"2023052312234060300_luad047-B6","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1097\/01.ASN.0000080180.51098.02","article-title":"The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation","volume":"14","author":"Gu\u00e9ry","year":"2003","journal-title":"J Am Soc Nephrol"},{"issue":"10","key":"2023052312234060300_luad047-B7","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1007\/s00415-009-5185-4","article-title":"Brain anomalies in maternally inherited diabetes and deafness syndrome","volume":"256","author":"Fromont","year":"2009","journal-title":"J Neurol"},{"issue":"8","key":"2023052312234060300_luad047-B8","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1016\/j.bbamcr.2013.03.010","article-title":"Maternal inheritance of mitochondrial DNA by diverse mechanisms to eliminate paternal mitochondrial DNA","volume":"1833","author":"Sato","year":"2013","journal-title":"Biochim Biophys Acta"},{"issue":"9","key":"2023052312234060300_luad047-B9","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1038\/nrg3966","article-title":"The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease","volume":"16","author":"Stewart","year":"2015","journal-title":"Nat Rev Genet"}],"container-title":["JCEM Case 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