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This single-center study assessed genetic categories of pediatric mitochondrial disease using auxologic data, pubertal development, and symptom-driven hormonal profiles. Among 26 patients, 46% were female and 57.6% had nuclear DNA mutations. Hormonal deficits occurred in 23%, including ovarian insufficiency, central adrenal insufficiency, central hypothyroidism, diabetes mellitus, and illness-related adrenal insufficiency.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/endocrine-disorders-in-children-with-primary-mitochondrial-diseases-single-center-experience-506388/506388/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/endocrine-disorders-in-children-with-primary-mitochondrial-diseases-single-center-experience-506388/506388.png","ImageObject",300,407,{"name":92,"@type":93},"Angel","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-29","2026-10-05",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",11,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What was the objective of this single-center study on primary mitochondrial diseases?","Question",{"text":113,"@type":114},"To evaluate the endocrinological characteristics of mitochondrial disease in a cohort from a single center, focusing on endocrine abnormalities in affected children.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"How were patients categorized and what data were collected?",{"text":118,"@type":114},"Pediatric patients were categorized by specific genetic abnormalities, and auxologic data, pubertal development, and hormonal profiles were obtained based on clinical symptoms.",{"name":120,"@type":111,"acceptedAnswer":121},"What endocrine deficits were observed and how common were they?",{"text":122,"@type":114},"Hormonal deficits occurred in 23% of the 26 patients, including ovarian insufficiency, central adrenal insufficiency, central hypothyroidism, diabetes mellitus, and critical illness-related adrenal insufficiency.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},506388,1791301002,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":140,"language":141,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":142,"faqs":143,"seo_title":144,"seo_description":67,"update_tm":145,"read_time":41,"preview_page_count":4},687207412472,"https://ap-avatar.wpscdn.com/davatar_155a257f0dc6eb9ab79c44ca47cae57d","J Clin Res Pediatr Endocrinol 2025;17(1):34-45  \nEndocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience  \n Esra Deniz Papatya Çakır1,  Melike Ersoy2,  Nihan Çakır Biçer3,  Asuman Gedikbaşı4  \n1University of Health Sciences Türkiye, Bakırköy Dr. Sadi Konuk Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Türkiye  \n2University of Health Sciences Türkiye, Bakırköy Dr. Sadi Konuk Training and Research Hospital, Clinic of Pediatric Metabolism, İstanbul, Türkiye  \n3Acıbadem Mehmet AliAydınlar University, Faculty of Health Sciences, Department of Nutrition and Dietetics, İstanbul, Türkiye  \n4İstanbul University Institute of Child Health, Department of Pediatric Basic Sciences, Division of Medical Genetics; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Genetics, İstanbul, Türkiye  \nWhat is already known on this topic?  \nPrimary mitochondrial diseases (MD) can manifest with endocrine abnormalities characterized by problems in hormone production and secretion. The initial clinical manifestation of primary MD may be a hormonal deficit.  \nWhat this study adds?  \nThis study examined the genetics, phenotype, auxological data, and hormonal profiles of children and adolescent patients with MD. To the best of our understanding, this study represents the most extensive investigation conducted on this specific patient population in Türkiye.  \nAbstract  \nObjective: Endocrine abnormalities may be the only clinical manifestation of primary mitochondrial disorders. The aim of this study was to evaluate the endocrinological characteristics of mitochondrial disease (MD) in a cohort from a single center.  \nMethods: Pediatric patients diagnosed with MD were categorized on the basis of their specific genetic abnormalities. The auxologic data, pubertal development, and, based on their clinical symptoms, hormonal profiles were obtained.  \nResults: Twelve of the cohort of 26 patients (46%) were female. In 15 (57.6%), the MD was caused by nuclear DNA mutations (nDNA group) . Four patients had Leigh syndrome, two patients had Leber’s Hereditary Optic Neuropathy syndrome, two patients had Mitochondrial Encephalopathy Lactic Acidosis and Stroke Like episodes, and one patient had Kearns-Sayre syndrome clinical phenotype. The median age at diagnosis was 2.91 (0.59-16.8) years, and the median age at first endocrine evaluation was 4.62 (1.26-18) years. The mean height standard deviation score (SDS) was-1.34±2.12, and the mean body mass index SDS was-0.82±1 .96 for all patients. Of the 26 patients, 6 (23%) had a range of hormonal deficits. Ovarian insufficiency, central adrenal insufficiency, central hypothyroidism, diabetes mellitus, and critical illness-related adrenal insufficiency were all observed. Three of the patients were initially monitored in the endocrine clinic for hormone deficiencies but it was later determined that the hormonal abnormalities were caused by underlying MD. Conclusion: Individuals diagnosed with MD, particularly those with specific genetic abnormalities, are considered a high-risk group for developing hormonal deficits. Endocrine abnormalities may be one of the primary early warning symptoms for MD.  \nKeywords: Primary mitochondrial disease, genotype-phenotype, endocrine disorders, endocrin abnormalities  \nCite this article as: Papatya Çakır ED, Ersoy M, Çakır Biçer N, Gedikbaşı A. Endocrine disorders in children with primary mitochondrial diseases: single center experience. J Clin Res Pediatr Endocrinol. 2025;17(1):34-45  \nAddress for Correspondence: Esra Deniz Papatya Çakır MD, University of Health Sciences Türkiye, Bakırköy Dr. Sadi Konuk Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Türkiye E-mail: edpapatya@yahoo.com ORCID: [orcid.org/0000-0003-4664-7435](orcid.org/0000-0003-4664-7435)  \nConflict of interest: None declared  \nReceived: 28.01.2024  \nAccepted: 05.07.2024  \nEpub: 07.08.2024  \nPublication date: 1","cbCaibSuM0oCKE1F","https://ap.wps.com/l/cbCaibSuM0oCKE1F","pdf",278472,12,"English","# Objective\n# Methods\n# Results\n# Conclusion","[{\"question\":\"What was the objective of this single-center study on primary mitochondrial diseases?\",\"answer\":\"To evaluate the endocrinological characteristics of mitochondrial disease in a cohort from a single center, focusing on endocrine abnormalities in affected children.\"},{\"question\":\"How were patients categorized and what data were collected?\",\"answer\":\"Pediatric patients were categorized by specific genetic abnormalities, and auxologic data, pubertal development, and hormonal profiles were obtained based on clinical symptoms.\"},{\"question\":\"What endocrine deficits were observed and how common were they?\",\"answer\":\"Hormonal deficits occurred in 23% of the 26 patients, including ovarian insufficiency, central adrenal insufficiency, central hypothyroidism, diabetes mellitus, and critical illness-related adrenal insufficiency.\"}]","Endocrine Disorders in Children with Primary Mitochondrial Diseases - Single Center Experience | PDF",1791164213]