Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.
Mol Cell Endocrinol. 2013 Oct 15;379(1-2):2-11. doi: 10.1016/j.mce.2013.06.004. Epub 2013 Jun 13.
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.
线粒体疾病中内分泌功能障碍很常见，但主要局限于内分泌胰腺疾病导致的糖尿病。其他内分泌表现也会发生，但相对较少见。在线粒体疾病中，神经肌肉症状常常主导临床表型，但重要的是要认识到疾病的多系统性质，其中内分泌功能障碍可能是其中的一部分。许多归因于线粒体（mtDNA）和核 DNA 中致病性突变的表型，导致了一种复杂而多样的疾病目录，这对于新手和专家来说都很难理解。在本文中，我们概述了与线粒体疾病相关的内分泌紊乱，以及潜在的线粒体紊乱如何影响临床表现，以及这些因素如何影响后续的治疗。
