Endocrine Disorders in Primary Mitochondrial Disease
Endocrine Disorders in Primary Mitochondrial Disease
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DOI：
10.1210/js.2017-00434
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发表时间：
2018-04-01
影响因子：
4.1
通讯作者：
McCormack, Shana E.
中科院分区：
文献类型：
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作者：
Al-Gadi, Iman S.;Haas, Richard H.;McCormack, Shana E.
Context: Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed.Objective: To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease.Design, Setting, and Patients: The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease. Participants (n = 404) are of any age, with a diagnosis of primary mitochondrial disease confirmed by molecular genetic testing.Main Outcome Measures: Age-specific prevalence of diabetes mellitus (DM), abnormal growth and sexual maturation (AGSM), hypoparathyroidism, and hypothyroidism.Results: The majority of our sample was pediatric (
