ArticleEndocrine reviews2022
Endocrine Manifestations and New Developments in Mitochondrial Disease.
Article in Endocrine reviews, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 33 citations in OpenAlex.
- A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nature communications · 2026Article
- Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.American journal of medical genetics. Part A · 2026Article
- Prevalence and treatment of mitochondrial diabetes in Southwest Finland.Journal of diabetes and metabolic disorders · 2026Article
- Article
- Diabetes management in maternally inherited diabetes and deafness (MIDD): A review and a proposed treatment algorithm.Diabetes, obesity & metabolism · 2026Review
- Prolonged Gastrointestinal Transit Times and Dysmotility in m.3243A>G Mitochondrial Disease.Neurogastroenterology and motility · 2025Article
- Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.Communications medicine · 2025Article
- Diabetes, macrocytosis, and skin changes in large-scale mtDNA deletion.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Endocrine Dysfunction in Primary Mitochondrial Diseases.Endocrine reviews · 2025Review
- Neonatal and Syndromic Forms of Diabetes.Current diabetes reports · 2025Review
- Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center ExperienceJournal of clinical research in pediatric endocrinology · 2025Article
- A rareTranslational pediatrics · 2025Article
- Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review.European journal of translational myology · 2024Article
- Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.Endocrine connections · 2024Article
- A retrospective cohort study evaluating pregnancy outcomes in women with MIDD.Acta diabetologica · 2024Article
- Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.Human molecular genetics · 2024Article
- Mitochondrial Chronic Progressive External Ophthalmoplegia.Brain sciences · 2024Review
- Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.Archives of endocrinology and metabolism · 2024Article
- Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa.African journal of laboratory medicine · 2024Article
- Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.Balkan journal of medical genetics : BJMG · 2023Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Mitochondrial diseases are a group of common inherited diseases causing disruption of oxidative phosphorylation. Some patients with mitochondrial disease have endocrine manifestations, with diabetes mellitus being predominant but also include hypogonadism, hypoadrenalism, and hypoparathyroidism. There have been major developments in mitochondrial disease over the past decade that have major implications for all patients. The collection of large cohorts of patients has better defined the phenotype of mitochondrial diseases and the majority of patients with endocrine abnormalities have involvement of several other systems. This means that patients with mitochondrial disease and endocrine manifestations need specialist follow-up because some of the other manifestations, such as stroke-like episodes and cardiomyopathy, are potentially life threatening. Also, the development and follow-up of large cohorts of patients means that there are clinical guidelines for the management of patients with mitochondrial disease. There is also considerable research activity to identify novel therapies for the treatment of mitochondrial disease. The revolution in genetics, with the introduction of next-generation sequencing, has made genetic testing more available and establishing a precise genetic diagnosis is important because it will affect the risk for involvement for different organ systems. Establishing a genetic diagnosis is also crucial because important reproductive options have been developed that will prevent the transmission of mitochondrial disease because of mitochondrial DNA variants to the next generation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.