Papatya Çakır Esra Deniz, Ersoy Melike, Çakır Biçer Nihan, Gedikbaşı Asuman
University of Health Sciences Türkiye, Bakırköy Dr. Sadi Konuk Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Türkiye
University of Health Sciences Türkiye, Bakırköy Dr. Sadi Konuk Training and Research Hospital, Clinic of Pediatric Metabolism, İstanbul, Türkiye
J Clin Res Pediatr Endocrinol. 2025 Mar 19;17(1):34-45. doi: 10.4274/jcrpe.galenos.2024.2024-1-11. Epub 2024 Aug 8.
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.
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.
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.
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.
内分泌异常可能是原发性线粒体疾病的唯一临床表现。本研究旨在评估来自单一中心队列中线粒体疾病（MD）的内分泌特征。
根据特定基因异常对诊断为MD的儿科患者进行分类。获取其生长发育数据、青春期发育情况，并根据临床症状获取激素谱。
26例患者队列中有12例（46%）为女性。15例（57.6%）的MD由核DNA突变引起（nDNA组）。4例患者患有Leigh综合征，2例患者患有Leber遗传性视神经病变综合征，2例患者患有线粒体脑肌病伴乳酸酸中毒和卒中样发作，1例患者具有Kearns-Sayre综合征临床表型。诊断时的中位年龄为2.91（0.59 - 16.8）岁，首次内分泌评估时的中位年龄为4.62（1.26 - 18）岁。所有患者的平均身高标准差评分（SDS）为 - 1.34±2.12，平均体重指数SDS为 - 0.82±1.96。26例患者中，6例（23%）存在一系列激素缺乏。观察到卵巢功能不全、中枢性肾上腺功能不全、中枢性甲状腺功能减退、糖尿病以及危重症相关肾上腺功能不全。3例患者最初在内分泌门诊因激素缺乏接受监测，但后来确定激素异常是由潜在的MD引起的。
诊断为MD的个体，尤其是那些具有特定基因异常的个体，被认为是发生激素缺乏的高危人群。内分泌异常可能是MD的主要早期预警症状之一。
