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Maternally Inherited Diabetes and Deafness (MIDD) – Atypical Clinical Diabetes Features Leading to the Diagnosis

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Peer-reviewed

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Authors

Hadjivassiliou, Marilena  ORCID logo  https://orcid.org/0000-0001-6609-6277
Papapostolou, Anastasia  ORCID logo  https://orcid.org/0000-0002-6157-2761
Picolos, Michalis K  ORCID logo  https://orcid.org/0000-0003-3562-8810

Abstract

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.

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Keywords

heteroplasmy, insulin-requiring diabetes, mitochondrial diabetes, Cyprus, MIDD, mitochondrial DNA

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Publisher

Oxford University Press