Endocrine features of primary mitochondrial diseases.
Journal
Current opinion in endocrinology, diabetes, and obesity
ISSN: 1752-2978
Titre abrégé: Curr Opin Endocrinol Diabetes Obes
Pays: England
ID NLM: 101308636
Informations de publication
Date de publication:
05 Dec 2023
05 Dec 2023
Historique:
medline:
4
12
2023
pubmed:
4
12
2023
entrez:
4
12
2023
Statut:
aheadofprint
Résumé
Primary mitochondrial diseases are one of the most prevalent groups of multisystem genetic disorders. Endocrinopathies associated with mitochondrial diseases may have clinical features that are distinct from the more common forms. We provide an overview of mitochondrial disorder genetics and phenotypes, focusing on recent studies regarding identification and treatment of associated endocrinopathies. Known endocrine phenotypes of mitochondrial disorders continue to expand, and now include growth hormone deficiency, hypogonadism, precocious puberty, hypoparathyroidism, hypo- and hyperthyroidism, diabetes, and adrenal insufficiency. Recent studies suggest several genotype-phenotype correlations, including those related to nuclear variants. Diagnosis is important, as special considerations should be made in the management of endocrinopathies in mitochondrial patients. Finally, new mitochondrial replacement strategies may soon be available for women interested in preventing mitochondrial disease transmission to offspring. Patients with multiple endocrinopathies or atypical endocrinopathies should be evaluated for primary mitochondrial disease, as a diagnosis may impact management of these individuals.
Identifiants
pubmed: 38047549
doi: 10.1097/MED.0000000000000848
pii: 01266029-990000000-00085
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.
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