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dc.contributor.author | Makgopa, Herbert![]() |
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dc.contributor.author | Kemp, Tanja![]() |
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dc.contributor.author | Meldau, Surita![]() |
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dc.contributor.author | Honey, Engela M.![]() |
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dc.contributor.author | Chale-Matsau, Bettina![]() |
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dc.date.accessioned | 2024-07-30T10:12:51Z | |
dc.date.available | 2024-07-30T10:12:51Z | |
dc.date.issued | 2024-05 | |
dc.description | DATA AVAILABITY STATEMENT: The authors confirm that the data supporting the findings of this study are available within the article. | en_US |
dc.description.abstract | INTRODUCTION: Maternally inherited diabetes and deafness (MIDD) is caused by the m.3243A>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. CASE PRESENTATION: A 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>G. A third sister tested positive for m3243A>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>G. MANAGEMENT AND OUTCOME: A multidisciplinary team managed and screened for complications of the patient and his maternal relatives. Proband died prior to genetic testing. CONCLUSION: Most 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’s maternal relatives. WHAT THE STUDY ADDS: This study demonstrates the importance of proper assessment when evaluating a patient with diabetes and a family history of hearing loss. | en_US |
dc.description.department | Biochemistry | en_US |
dc.description.department | Chemical Pathology | en_US |
dc.description.department | Genetics | en_US |
dc.description.department | Internal Medicine | en_US |
dc.description.department | Microbiology and Plant Pathology | en_US |
dc.description.sdg | SDG-03:Good heatlh and well-being | en_US |
dc.description.uri | https://ajlmonline.org/index.php/ajlm | en_US |
dc.identifier.citation | Makgopa H, Kemp T, Meldau S, Honey EM, Chale-Matsau B. Maternally inherited diabetes and deafness with avariable presentation across three generations within a pedigree, South Africa. African Journal of Laboratory Medicine 2024;13(1), a2384. https://doi.org/10.4102/ajlm.v13i1.2384. | en_US |
dc.identifier.issn | 2225-2002 (print) | |
dc.identifier.issn | 2225-2010 (online) | |
dc.identifier.other | 10.4102/ajlm.v13i1.2384 | |
dc.identifier.uri | http://hdl.handle.net/2263/97326 | |
dc.language.iso | en | en_US |
dc.publisher | AOSIS | en_US |
dc.rights | © 2024. The Authors. Licensee: AOSIS. This work is licensed under the Creative Commons Attribution License. | en_US |
dc.subject | Diabetes | en_US |
dc.subject | Heteroplasmy | en_US |
dc.subject | Hearing loss | en_US |
dc.subject | Mitochondrial DNA (mtDNA) | en_US |
dc.subject | Maternally inherited diabetes and deafness (MIDD) | en_US |
dc.subject.other | Health sciences article SDG-03 | |
dc.subject.other | SDG-03: Good health and well-being | |
dc.title | Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa | en_US |
dc.type | Article | en_US |