Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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 one of the primary mitochondrial disorders\' early warning symptoms.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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 one of the primary mitochondrial disorders\' early warning symptoms.
摘要：
■内分泌异常可能是原发性线粒体疾病的唯一临床表现。本研究旨在评估我们队列中线粒体疾病的内分泌特征。
■根据特定的遗传异常对诊断为线粒体疾病的26名儿科患者进行分类。营养数据，青春期发育,and,根据他们的临床症状，获得了荷尔蒙概况。
■26例患者队列中有12例（46%）是女性。在15名患者中（57.6％），他们的线粒体疾病（MD）是由核DNA突变（nDNA组）引起的。四名患者患有Leigh综合征，2例患者患有LHON综合征，2名患者患有MELAS，1例患者具有KSS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SDS为-1.34±2.12，平均BMISDS为-0.82±1.96。在26名患者中，6（23％）有一系列的激素缺陷。卵巢功能不全,中枢肾上腺功能不全,中枢甲状腺功能减退症,糖尿病,和危重症相关的肾上腺功能不全都被观察到。最初在内分泌诊所监测了其中三名患者的激素缺乏，但后来确定激素异常是由潜在的线粒体疾病引起的。
■诊断为线粒体疾病的个体，特别是那些有特定基因异常的人，被认为是荷尔蒙缺乏的高危人群。内分泌疾病可能是线粒体疾病的主要预警症状之一。
■根据特定的遗传异常对诊断为线粒体疾病的26名儿科患者进行分类。营养数据，青春期发育,and,根据他们的临床症状，获得了荷尔蒙概况。
■26例患者队列中有12例（46%）是女性。在15名患者中（57.6％），他们的线粒体疾病（MD）是由核DNA突变（nDNA组）引起的。四名患者患有Leigh综合征，2例患者患有LHON综合征，2名患者患有MELAS，1例患者具有KSS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SDS为-1.34±2.12，平均BMISDS为-0.82±1.96。在26名患者中，6（23％）有一系列的激素缺陷。卵巢功能不全,中枢肾上腺功能不全,中枢甲状腺功能减退症,糖尿病,和危重症相关的肾上腺功能不全都被观察到。最初在内分泌诊所监测了其中三名患者的激素缺乏，但后来确定激素异常是由潜在的线粒体疾病引起的。
■诊断为线粒体疾病的个体，特别是那些有特定基因异常的人，被认为是荷尔蒙缺乏的高危人群。内分泌疾病可能是线粒体疾病的主要预警症状之一。
