ArticleJournal of the Endocrine Society2018
Endocrine Disorders in Primary Mitochondrial Disease.
Article in Journal of the Endocrine Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
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- A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nature communications · 2026Article
- The βBritish journal of pharmacology · 2026Article
- RTN4IP1 mutation and endocrine failure: clinical features and possible benefits of coenzyme Q10.Endocrine connections · 2026Article
- Nutrient and endocrine factors affecting impaired growth in pediatric mitochondrial diseases.Endocrinology, diabetes & metabolism case reports · 2026Article
- Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report.Journal of medical case reports · 2025Article
- Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion Syndromes.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Diabetes, macrocytosis, and skin changes in large-scale mtDNA deletion.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.Orphanet journal of rare diseases · 2025Article
- Endocrine Dysfunction in Primary Mitochondrial Diseases.Endocrine reviews · 2025Review
- Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center ExperienceJournal of clinical research in pediatric endocrinology · 2025Article
- Exploring dopa decarboxylase as an ideal biomarker in Parkinson's disease with focus on regulatory mechanisms, cofactor influences, and metabolic implications.npj biomedical innovations · 2025Review
- Mitophagy Unveiled: Exploring the Nexus of Mitochondrial Health and Neuroendocrinopathy.Journal of molecular neuroscience : MN · 2024Review
- SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development.Cellular and molecular life sciences : CMLS · 2024Article
- Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.The Biochemical journal · 2024Review
- Endocrine Challenges in Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.Cureus · 2023Article
- Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.Balkan journal of medical genetics : BJMG · 2023Article
- Article
- Adrenal Dysfunction in Mitochondrial Diseases.International journal of molecular sciences · 2023Review
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
contextEndocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed.
objectiveTo measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. DESIGN SETTING AND PATIENTS: The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease. Participants (n = 404) are of any age, with a diagnosis of primary mitochondrial disease confirmed by molecular genetic testing.
main outcome measuresAge-specific prevalence of diabetes mellitus (DM), abnormal growth and sexual maturation (AGSM), hypoparathyroidism, and hypothyroidism.
resultsThe majority of our sample was pediatric (<18 years; 60.1%), female (56.9%), and white (85.9%). DM affected 2% of participants aged <18 years [95% confidence interval (CI): 0.4% to 5.7%] and 24.4% of adult participants (95% CI: 18.6% to 30.9%). DM prevalence was highest in individuals with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome (MELAS; 31.9%, of whom 86.2% had the m.3243A>G mutation). DM occurred more often with mitochondrial DNA defects (point mutations and/or deletions) than with nuclear DNA mutations (23.3% vs 3.7%, respectively;
conclusionDM and AGSM are highly prevalent in primary mitochondrial disease. Certain clinical mitochondrial syndromes (MELAS and Kearns-Sayre/Pearson syndrome spectrum disorders) demonstrated a higher burden of endocrinopathies. Clinical screening practices should reflect the substantial prevalence of endocrine disorders in mitochondrial disease.
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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.