{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T09:31:38Z","timestamp":1785403898521,"version":"3.56.0"},"reference-count":17,"publisher":"AOSIS","issue":"1","license":[{"start":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T00:00:00Z","timestamp":1716940800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Introduction:\u00a0Maternally inherited diabetes and deafness (MIDD) is caused by the m.3243A&gt;G pathogenic variant in maternally inherited mitochondrial DNA. Diabetes is prevalent in our setting; however, MIDD is rarely diagnosed. This study, undertaken in Pretoria, South Africa, highlights the variable presentation of MIDD in different patients within the same family.\n\nCase presentation:\u00a0A 45-year-old man (proband) with hearing impairment was referred to the endocrine unit in July 2015 due to poor glycaemic control (HbA1c = 13%). His clinical and biochemical features were in keeping with MIDD. A genetic study of accessible maternal relatives was pursued. His mother had difficulty hearing and reportedly died from an unspecified cardiovascular cause. Two sisters with diabetes and deafness died of cardiac-related conditions. One nephew had diabetes (HbA1c = 7.7%), hearing loss and tested positive for m.3243A&gt;G. A third sister tested positive for m3243A&gt;G, but aside from bilateral mild hearing loss in higher frequencies, showed no other signs of target organ damage. Her daughter developed end-stage kidney failure necessitating a transplant, while her son had no biochemical abnormalities and was negative for m.3243A&gt;G.\n\nManagement and outcome:\u00a0A multidisciplinary team managed and screened for complications of the patient and his maternal relatives. Proband died prior to genetic testing.\n\nConclusion:\u00a0Most MIDD patients initially present with symptoms of diabetes only, and it is probable that many cases remain undiagnosed. A high index of suspicion is necessary when encountering a family history of both diabetes and impaired hearing, and screening should be offered to the patient\u2019s maternal relatives.\n\nWhat the study adds:\u00a0This study demonstrates the importance of proper assessment when evaluating a patient with diabetes and a family history of hearing loss.<\/jats:p>","DOI":"10.4102\/ajlm.v13i1.2384","type":"journal-article","created":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T07:51:41Z","timestamp":1716969101000},"update-policy":"https:\/\/doi.org\/10.4102\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa"],"prefix":"10.4102","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9922-9758","authenticated-orcid":false,"given":"Herbert","family":"Makgopa","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00g0p6g84","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Pretoria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0420-979X","authenticated-orcid":false,"given":"Tanja","family":"Kemp","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00g0p6g84","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Pretoria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0612-2071","authenticated-orcid":false,"given":"Surita","family":"Meldau","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03p74gp79","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Cape Town"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4587-2844","authenticated-orcid":false,"given":"Engela M.","family":"Honey","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00g0p6g84","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Pretoria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3368-6398","authenticated-orcid":false,"given":"Bettina","family":"Chale-Matsau","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/00g0p6g84","id-type":"ROR","asserted-by":"publisher"}],"name":"University of Pretoria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2580","published-online":{"date-parts":[[2024,5,29]]},"reference":[{"key":"ref0","doi-asserted-by":"crossref","unstructured":"Schlieben LD, Prokisch H. 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