[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-seo-506358-105":3,"detail-sidebar-cat-0-en-105":81,"doc-detail-506358-en":131},{"code":4,"msg":5,"data":6},0,"ok",{"site_id":7,"language":8,"slug":9,"title":10,"keywords":11,"description":12,"schema_data":13,"social_meta":74,"head_meta":76,"extra_data":78,"updated_unix":80},105,"en","endocrine-disorders-in-children-with-primary-mitochondrial-diseases-single-center-experience","Endocrine Disorders in Children with Primary Mitochondrial Diseases - Single-Center Experience","","Research evaluates endocrine manifestations in a pediatric cohort with primary mitochondrial diseases through genetics, growth assessment, pubertal development, and hormonal profiling. Twenty-six patients were grouped by specific genetic abnormalities, and hormone deficits were documented alongside clinical presentation. Findings show that a substantial subset had hormonal insufficiencies, including ovarian, adrenal, thyroid, and diabetes-related conditions, sometimes initially treated as isolated endocrine problems. Results support endocrine screening as an early warning for mitochondrial disease.",{"@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-disorders-in-children-with-primary-mitochondrial-diseases-single-center-experience/506358/",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-disorders-in-children-with-primary-mitochondrial-diseases-single-center-experience/506358.png","ImageObject",300,407,{"name":42,"@type":43},"Oliver","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-11-06","2026-10-05",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",12,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What was the objective of the study?","Question",{"text":63,"@type":64},"To evaluate the endocrinological characteristics of mitochondrial disease in the study cohort, focusing on endocrine abnormalities as clinical manifestations.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How were patients selected and categorized?",{"text":68,"@type":64},"Twenty-six pediatric patients diagnosed with mitochondrial disease were categorized based on their specific genetic abnormalities.",{"name":70,"@type":61,"acceptedAnswer":71},"What endocrine problems were observed among the patients?",{"text":72,"@type":64},"Hormonal deficits were observed in 23% of patients, including ovarian insufficiency, central adrenal insufficiency, central hypothyroidism, diabetes mellitus, and critical-illness-related adrenal insufficiency.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},506358,1791301702,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,110,115,120,123,127],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":89,"show_sort_weight":90,"slug":91},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":93,"show_sort_weight":94,"slug":95},"Exam",70,"exam",{"id":97,"doc_module":4,"doc_module_name":25,"category_name":98,"show_sort_weight":99,"slug":100},5,"Comic",60,"comic",{"id":102,"doc_module":4,"doc_module_name":25,"category_name":103,"show_sort_weight":104,"slug":105},6,"Technology",50,"technology",{"id":107,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":108,"slug":109},7,40,"healthcare",{"id":111,"doc_module":4,"doc_module_name":25,"category_name":112,"show_sort_weight":113,"slug":114},8,"Research & Report",30,"research-report",{"id":116,"doc_module":4,"doc_module_name":25,"category_name":117,"show_sort_weight":118,"slug":119},9,"Religion & Spirituality",20,"religion-spirituality",{"id":118,"doc_module":4,"doc_module_name":25,"category_name":121,"show_sort_weight":118,"slug":122},"World Cup","world-cup",{"id":124,"doc_module":4,"doc_module_name":25,"category_name":125,"show_sort_weight":124,"slug":126},10,"Lifestyle","lifestyle",{"id":128,"doc_module":4,"doc_module_name":25,"category_name":129,"show_sort_weight":97,"slug":130},19,"General","general",{"code":4,"msg":82,"data":132},{"doc_id":79,"user_id":133,"nickname":42,"user_avatar":134,"doc_module":4,"category_id":107,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":55,"language":140,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":12,"update_tm":144,"read_time":113,"preview_page_count":4},8796095461610,"https://ap-avatar.wpscdn.com/davatar_276721f389ce27ea32af1340a28f341c","DOI: 10.4274/jcrpe.galenos.2024.2024-1-11  \nResearch Article  \nEndocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience  \nPAPATYA ÇAKIR ED et al. Endocrine Disorders in Mitochondrial Disease  \nEsra Deniz PAPATYA ÇAKIR1, Melike ERSOY1, Nihan ÇAKIR BİÇER2, Asuman GEDİKBAŞI3  \n1University of Health Sciences, Bakırköy Dr. Sadi Konuk Education and Research Hospital, Depatment of Pediatric Endocrinology, MD, İSTANBUL  \n2Acıbadem Mehmet Ali Aydınlar University, Faculty of Health Sciences, Department of Nutrition and Dietetics, PhD İSTANBUL  \n3Istanbul University Institute of Child Health, Department of Pediatric Basic Sciences Division of Medical Genetics, Istanbul University Faculty of Medicine Department of Pediatric Genetics MD, PhD İSTANBUL  \nWhat is already known on this topic?  \nPrimary mitochondrial diseases can manifest with endocrine abnormalities characterized by problems in hormone production and secretion. The initial clinical manifestation of primary mitochondrial disease may be a hormonal deficit.  \nWhat does this study add?  \nThis study examines the genetics, phenotype, auxological data, and hormonal profiles of children and adolescent patients with mitochondrial disease. To the best of our understanding, this study represents the most extensive investigation conducted on this specific patient population in Turkiye.  \nAbstract  \nObjective: Endocrine abnormalities may represent the only clinical manifestation of primary mitochondrial disorders. This study aimed to evaluate the endocrinological characteristics of mitochondrial disease in our cohort.  \nMethods: A total of twenty-six pediatric patients diagnosed with mitochondrial disease 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 of the patients (57.6%), their mitochondrial disease (MD) was caused by nuclear DNA mutations (nDNA group). Four patients had Leigh syndrome, 2 patients had LHON syndrome, 2 patients had MELAS, and 1 patient had KSS clinical phenotype. The median age at diagnosis was 2.91 (0.59–16.8) years, and the median age at first endocrinologic evaluation was 4.62 (1.26–18) years. The mean height SDS was-1.34 ± 2.12, and the mean BMI 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 mitochondrial disease.  \nConclusion: Individuals diagnosed with mitochondrial disease, particularly those with specific genetic abnormalities, are considered a high-risk group for developing hormonal deficits. Endocrine diseases could be oneof the primary mitochondrial disorders’ early warning symptoms.  \nKeywords: Primary mitochondrial disease, genotype-phenotype, Endocrine disorders, Endocrin abnormalities  \nEsra Deniz PAPATYA ÇAKIR, University of Health Sciences, Bakırköy Dr. Sadi Konuk Education and Research Hospital, Depatment of Pediatric Endocrinology, MD, İSTANBUL  \n0000-0003-4664-7435  \n+90 532 643 9470  \n[edpapatya@yahoo.com](edpapatya@yahoo.com)  \n[28.01.2024](28.01.2024)  \n[05.07.2024](05.07.2024)  \nPublished: 07.08.2024  \nIntroduction  \nPrimary mitochondrial diseases (PMDs) are multisystemic diseases that encompass a broad spectrum of conditions. The incidence of mitochondrial diseases (MDs) is estimated at 1/4500–5000 (1). These disorders are caused by point mutations or by large deletions in either the mitochondrial (mtDNA) or nuclear DNA (nDNA), which both alter the structure and function of the mitochondria. In addition to th","cbCaicyyCtjN81B2","https://ap.wps.com/l/cbCaicyyCtjN81B2","pdf",1469808,"English","# Introduction\n# Methods\n# Results\n# Conclusion","[{\"question\":\"What was the objective of the study?\",\"answer\":\"To evaluate the endocrinological characteristics of mitochondrial disease in the study cohort, focusing on endocrine abnormalities as clinical manifestations.\"},{\"question\":\"How were patients selected and categorized?\",\"answer\":\"Twenty-six pediatric patients diagnosed with mitochondrial disease were categorized based on their specific genetic abnormalities.\"},{\"question\":\"What endocrine problems were observed among the patients?\",\"answer\":\"Hormonal deficits were observed in 23% of 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",1791163298]