Endocrine disorders in mitochondrial disease

Abstract

HighlightsMitochondrial disorders are common, genetically-heterogeneous diseases characterised by multisystem involvement.Endocrine dysfunction in mitochondrial disease is not uncommon.This is predominantly restricted to disease of the endocrine pancreas leading to diabetes mellitus.We review the common endocrine disorders associated with mitochondrial dysfunction.Optimal strategies for supporting and managing patients are discussed.

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

“…Furthermore, a decrease in height was found among these autistic children compared to other autistic children in the SFARI database (Mann-Whitney test, P = 0.026, S3 Table). Shorter stature was previously proposed as one of the major symptoms of MD [61,67] and was discovered in patients with mtDNA(m.3243A>G) heteroplasmy-caused diabetes (i.e. maternally inherited diabetes and deafness, MIDD) compared to non-MIDD diabetic patients such as patients diagnosed with type 1 or type 2 diabetes [68], suggesting a common underlying pathophysiology of mtDNA origin.…”

Growth hormone deficiency in a patient with mitochondrial disease

“…It has also been reported in MELAS due to the m.3243A > G mutation. GH deficiency is often declared to be the cause of short stature in the mitochondrial myopathies, but the causes are more likely to be complex and multi-factorial for most patients (5).…”

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

“…Diabetes mellitus due to insulin insufficiency secondary to islet cell dysfunction or insulin resistance [17][18][19] , primary adrenal insufficiency, thyroid dysfunction, hypoparathyroidism and hypogonadism are also seen. 20,21 Patients with mitochondrial diseases may be chronically malnourished with deficiencies of both macro and micronutrients. Decreases in nutritional intake due to poor oral or enteral tolerance, in the setting of gastrointestinal (GI) dysmotility and paralytic ileus may further compromise nutrition in ill states.…”

“…Recent reviews on the topic are available. 20,21 Diabetes mellitus has long been a well-recognized potential endocrine consequence of mitochondrial disease. 23 Clinical presentations suggestive of either "typical" Type I or II diabetes mellitus can both be caused by primary mitochondrial impairment (mitochondrial disease-associated diabetes mellitus).…”