Category: Diabetes/Prediabetes/Hypoglycemia

Monitor: 7

7 - Challenges of a Rare Case in a High Diabetes Prevalence Area

Thursday, Apr 25
11:00 AM – 11:30 AM

Objective :  Maternally inherited diabetes and deafness in an Emirati


Methods :

Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes, accounting for approximately 1% of all diabetes cases. It was first described in 1992 by van den Ouweland et al in a Dutch family and by Reardon et al in a UK family. This quite heterogeneous syndrome results from an A to G substitution at the conserved position 3243 (m.3243A>G) of the mitochondrial DNA. The age and the mode of presentation of diabetes result in this entity being often misdiagnosed as either type 1 diabetes or type 2 diabetes. We present a case of 23 year old Emirati male who was incidentally found to have diabetes following routine pre-employment heath screening.  He was started on insulin in the local clinic with an initial HbA1c of 12% (108 mmol/mol).  Two weeks later he was seen at our center for his diabetes management. On examination, he was overweight with BMI of 27 kg/m2. He tested negative for anti-islet humoral markers (anti-GAD, and anti-IA2);  his insulin secretory reserve was maintained with C-Peptide of 0.631 nmol/L (normal range 0.37-1.47nmol/L) with plasma glucose of 11.6 mmol/L.  Baseline retinal screening demonstrated non-proliferative retinopathy (R1) and maculopathy (M1) with no evidence of other microvascular complications such as microalbuminuria.  


A family history of diabetes was present among maternal relatives.  His maternal uncle and grandmother had diabetes as did his mother.  She had been diagnosed with type 2 diabetes twenty years previously and transitioned to insulin for the last 3 years.  Of note she was under ENT follow ups for hearing problems.


Results :

The clinical suspicion of MIDD was confirmed by the detection of mitochondrial DNA mutation m.3243A>G in patient’s blood sample.  His mother was also tested positive for mitochondrial DNA mutation m.3243A>G.  His diabetes is currently managed with sulfonylurea. Considering the potential risk of lactic acidosis metformin has been avoided.   Mitochondrial diseases are heterogeneous disorders that result from the genetic derangement of mitochondrial DNA with associated alterations in mitochondrial structure and biochemical properties. Although mitochondrial diseases are usually characterized by encephalomyopathy, multiorgan systems can also be involved.


Discussion : This mutation has not previously been described in the United Arab Emirates. This case highlights the importance of continuing to maintain a high index of suspicion for inherited forms of diabetes.


Conclusion : The high prevalence of diabetes  results in many patients having affected relatives even in the absence of a genetic cause and  so careful history taking remains a cornerstone.




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Najeeb Waheed

Consultant Endocrinologist
ICLDC
Al Ain, Abu Dhabi, United Arab Emirates

Consultant Endocrinologist Imperial College London Diabetes Centre, Diabetes and Endocrinology, Al Ain, United Arab Emirates.

Nader Lessan

Consultant physician
Imperial College London Diabetes Centre, Abu Dhabi, Abu Dhabi, United Arab Emirates

Consultant Diabetologist and Endocrinologist at the Imperial College London Diabetes Centre Abu Dhabi

Saf Naqvi

Consultant Endocrinologist
Imperial College London Diabetes Centre, Abu Dhabi

Consultant Endocrinologist and Medical Director Imperial College London Diabetes Centre, Abu Dhabi

Najeeb Waheed

Consultant Endocrinologist
ICLDC
Al Ain, Abu Dhabi, United Arab Emirates

Consultant Endocrinologist Imperial College London Diabetes Centre, Diabetes and Endocrinology, Al Ain, United Arab Emirates.