Endocrine system disturbances in children with inherited metabolic diseases: a narrative review
Rattachement africain : it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Inborn metabolic diseases (IMDs) represent a diverse and complex group of rare disorders, typically resulting from variants in genes that encode specific enzymes or cofactors, leading to reduced or absent enzymatic activity. These conditions commonly disrupt one or more metabolic pathways, often impacting multiple organ systems from early childhood. Clinicians should consider the possibility of an IMD when an endocrine abnormality is accompanied by other unexplained clinical signs or in presence of combined endocrinopathies. While some IMDs associated with endocrine dysfunction in children and adolescents are well-documented and supported by established treatment guidelines, others lack clear recommendations or are characterized by inconsistent data. This narrative review aims to summarize the main IMDs that present with endocrine abnormalities in pediatric patients, organized according to affected organ systems and underlying pathophysiological mechanisms. Furthermore, we reviewed the latest recommendations, when available, for monitoring endocrine function in children with these disorders and eventually for providing a tailored treatment, where applicable.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Endocrine system disturbances in children with inherited metabolic diseases: a narrative review
- Date Crossref
- 17/12/2025
- Éditeur
- Frontiers Media SA
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University of Milan Department of Biomedical and Clinical Science pays non établi dans la noticeUniversité ou école supérieure
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Ospedale dei Bambini Vittore Buzzi pays non établi dans la noticeÉtablissement de santé
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University of Pavia Department of Internal Medicine pays non établi dans la noticeUniversité ou école supérieure
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Vittore Buzzi Children's Hospital Department of Pediatrics pays non établi dans la noticeÉtablissement de santé
Department of Biomedical and Clinical Science — University of Milan, Ospedale dei Bambini Vittore Buzzi et Department of Internal Medicine — University of Pavia, avec 1 autre affiliation.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.