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This narrative review summarizes major pediatric IMDs with endocrine manifestations by affected organ systems and pathophysiological mechanisms, and discusses the latest available recommendations for monitoring endocrine function and, when applicable, tailored treatment strategies.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/endocrine-system-disturbances-in-children-with-inherited-metabolic-diseases-a-narrative-review/407369/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/endocrine-system-disturbances-in-children-with-inherited-metabolic-diseases-a-narrative-review/407369.png","ImageObject",300,407,{"name":42,"@type":43},"Rowan","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-30","2026-09-28",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",9,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"Why should clinicians suspect an inherited metabolic disease in pediatric patients with endocrine problems?","Question",{"text":63,"@type":64},"IMDs are genetic disorders that can impair enzyme or cofactor activity, leading to endocrine abnormalities that may occur alongside other unexplained clinical features. 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Endocrinol. 16:1717675 .  \ndoi: 10.3389/fendo.2025.1717675  \nCOPYRIGHT  \n© 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) and the copyright owner(s) 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.  \nEndocrine system disturbancesin children with inherited metabolic diseases:  \na narrative review  \nVeronica Maria Tagi 1,2, Laura Fiori 1, Chiara Montanari 1,2, Davide Tonduti 2,3, Matilde Ferrario 1, Mirko Gambino 1, Ilenia Pia Greco 1, Alessandra Cecchini 1, Valeria Calcaterra 1,4, Gianvincenzo Zuccotti 1,2 and Elvira Verduci 5,6*  \n1 Department of Pediatrics, Vittore Buzzi Children ’s Hospital, Milan, Italy, 2 Department of Biomedical and Clinical Science, University of Milan, Milan, Italy, 3COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, Vittore Buzzi Children’s Hospital, Milan, Italy,  \n4 Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy,  \n5 Department of Health Sciences, University of Milan, Milan, Italy, 6 Metabolic Diseases Unit, Department of Pediatrics, Vittore Buzzi Children ’s Hospital, Milan, Italy  \nInborn 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 welldocumented 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, wereviewed the latest recommendations, when available, for monitoring endocrine function in children with these disorders and eventually for providing a tailored treatment, where applicable.  \nKEYWORDS  \nadrenal glands, children, endocrine system, gonads, inherited metabolic diseases, pancreas, pituitary gland, thyroid  \nFrontiers in Endocrinology 01 [frontiersin.org](frontiersin.org)  \n1 Introduction  \nInborn metabolic diseases (IMDs) are a large and heterogeneous group of rare disorders, usually caused by variants in genes encoding specific enzymes or cofactors, leading to an impairment of their activity (1) . Since each of these d","cbCaiocqPnuVcdNs","https://ap.wps.com/l/cbCaiocqPnuVcdNs","pdf",1575662,16,"English","# Introduction\n# Scope and research question\n# Endocrine manifestations organized by organ systems\n## Pathophysiological mechanisms\n## Monitoring recommendations\n## Tailored treatment approaches","[{\"question\":\"Why should clinicians suspect an inherited metabolic disease in pediatric patients with endocrine problems?\",\"answer\":\"IMDs are genetic disorders that can impair enzyme or cofactor activity, leading to endocrine abnormalities that may occur alongside other unexplained clinical features. Combined endocrinopathies and findings atypical for the diagnosed endocrine condition should prompt evaluation for an underlying IMD.\"},{\"question\":\"What is the main goal of this narrative review?\",\"answer\":\"The review summarizes major IMDs presenting with endocrine abnormalities in pediatric patients, organizing them by affected organ systems and underlying pathophysiological mechanisms. It also reviews recent recommendations for monitoring endocrine function and, where available, tailored treatment.\"},{\"question\":\"How is the review content structured?\",\"answer\":\"It focuses on endocrine manifestations associated with IMDs and links them to the underlying mechanisms driving those disturbances. The organization by organ systems helps clinicians understand which endocrine problems may signal specific metabolic disorders.\"}]","Endocrine system disturbances in children with inherited metabolic diseases - a narrative review | PDF",1790573396]