中国卒中杂志Issue(1)：25-30,6.
4例MELAS综合征患者的内分泌激素水平研究和文献复习
Endocrine Hormones in 4 Cases of MELAS Syndrome and Literature Review
摘要
Abstract
Objective To investigate the endocrine hormone changes in 4 cases of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS) syndrome diagnosed by genetic and pathological methods and to review the literature. <br> Methods Four male patients with MELAS syndrome were admitted to Beijing Tiantan Hospital from October 2009 to December 2011, who complained of stroke-like episodes, epilepsy and short stature. One patient developed retarded secondary sexual characteristics. One patient had diabetes. Two patients underwent muscle biopsy. All the patients had undertaken mitochondrial gene testing and endocrine hormone testing. <br> Results Muscle pathology showed ragged red fibers(RRF) in 2 patients. Mitochondrial genetic analysis revealed mutation A3243G in 4 patients. The luteinizing hormone mildly decreased in 1 patient; prolactin increased in 2 patients; testosterone decreased significantly in 1 patient; thyroxine decreased slightly in 2 patients; insulin decreased in 1 patient. <br> Conclusion A variety of endocrine abnormalities could be found in MELAS patients, including gonadal hormone, thyroxine and insulin. We should pay attention to endocrine disorders in MELAS.关键词
MELAS综合征/性腺激素类/甲状腺素/胰岛素/脱氧核糖核酸,线粒体Key words
MELAS syndrome/Gonadal hormones/Thyroxine/Insulin/DNA, Mitochondria引用本文复制引用
陈彬,牛松涛,张亚清,于学英,崔韬,梁宪红,申园,张在强,袁云..4例MELAS综合征患者的内分泌激素水平研究和文献复习[J].中国卒中杂志,2013,(1):25-30,6.基金项目
北京天坛医院青年科研基金资助(2009YQ-14) （2009YQ-14）
