REVIEW article
Front. Endocrinol.
Sec. Pediatric Endocrinology
Endocrine system disturbances in children with Inherited Metabolic Diseases: a Narrative Review
Provisionally accepted
Veronica Maria Tagi1
Laura Fiori2
Chiara Montanari1Davide Tonduti1Matilde Ferrario2Mirko Gambino2Ilenia Pia Greco2Alessandra Cecchini2
Valeria Calcaterra3
Gianvincenzo Zuccotti1
Elvira Verduci1*- 1Universita degli Studi di Milano, Milan, Italy
- 2Ospedale dei Bambini Vittore Buzzi, Milan, Italy
- 3Universita di Pavia, Pavia, Italy
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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.
Keywords: Adrenal Glands, Children, Endocrine System, Gonads, Inherited metabolic diseases, Pancreas, Pituitary Gland, thyroid
Received: 02 Oct 2025; Accepted: 03 Dec 2025.
Copyright: © 2025 Tagi, Fiori, Montanari, Tonduti, Ferrario, Gambino, Greco, Cecchini, Calcaterra, Zuccotti and Verduci. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Elvira Verduci
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