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

目的探讨经基因及肌肉病理证实的4例线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrialencephalomyopathy with lactic acidosis and stroke—like episodes,MELAS)综合征患者的激素水平改变情况,并进行文献复习。方法 2009年10月～2011年12月北京天坛医院神经内科住院的4例MELAS综合征患者,4例患者均为男性,表现为卒中样发作、癫痫、身材矮小。1例患者存在第二性征发育迟滞,1例患者合并糖尿病。2例患者进行肌肉活检,4例患者进行线粒体基因检测和内分泌激素检查。结果 2例肌肉活检结果显示存在破碎红纤维,4例线粒体基因检测结果显示存在线粒体基因(A3243G)的突变。内分泌激素检查显示4例患者均存在内分泌异常,其中黄体生成素轻度降低1例,泌乳素增高2例,睾酮显著降低1例,甲状腺素轻度降低2例,胰岛素降低1例。结论 MELAS综合征惠者常合并内分泌异常,可存在多种内分泌激素水平的改变,包括性腺相关、甲状腺素、胰岛素等。应重视对MELAS综合征患者内分泌紊乱的诊断和治疗。

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. 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. 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. 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.