title: Endocrine disorders in mitochondrial disease.
abstract: Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature of the disease, of which endocrine dysfunction may be a part. The numerous phenotypes attributable to pathogenic mutations in both the mitochondrial (mtDNA) and nuclear DNA creates a complex and heterogeneous catalogue of disease which can be difficult to navigate for novices and experts alike. In this article we provide an overview of the endocrine disorders associated with mitochondrial disease, the way in which the underlying mitochondrial disorder influences the clinical presentation, and how these factors influence subsequent management.
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK. Electronic address: andrew.schaefer@nuth.nhs.uk.
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Schaefer
authors.forename: Mark
authors.initials: M
authors.lastname: Walker
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000273:Adipose Tissue / Q000378:metabolism; D001327:Autoimmune Diseases / Q000235:genetics / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics; D004702:Endocrine Glands / Q000378:metabolism*; D004700:Endocrine System Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism*; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010179:Pancreas / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial
keywords: Diabetes; Endocrine; Mitochondrial disease; m.3243A>G; mtDNA