Abstract
Aims Mitochondrial diseases are a heterogeneous group of genetic disorders that result from dysfunction of the respiratory chain. The endocrine disorders such as diabetes mellitus, hypoparathyroidism, hypothyroidism and growth hormone deficiency have been described in patients with mitochondrial DNA mutations. Among these, patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) frequently present with mitochondrial diabetes. Thus, this study was performed to investigate endocrine dysfunctions in patients with mitochondrial diseases.
Highlights
Mitochondrial diseases are a heterogeneous group of genetic disorders that result from dysfunction of the respiratory chain
The endocrine disorders such as diabetes mellitus, hypoparathyroidism, hypothyroidism and growth hormone deficiency have been described in patients with mitochondrial DNA mutations
Authors’ details 1Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea. 2Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
Summary
Aims Mitochondrial diseases are a heterogeneous group of genetic disorders that result from dysfunction of the respiratory chain. The endocrine disorders such as diabetes mellitus, hypoparathyroidism, hypothyroidism and growth hormone deficiency have been described in patients with mitochondrial DNA mutations. Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) frequently present with mitochondrial diabetes. This study was performed to investigate endocrine dysfunctions in patients with mitochondrial diseases
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