Kang Y-X, Wang Y-J, Zhang Q, Pang X-H, Gu W
Department of Endocrinology, Zhejiang University School of Medicine Second Affiliated Hospital, Hangzhou, China.
Andrologia. 2017 Oct;49(8). doi: 10.1111/and.12711. Epub 2016 Oct 6.
Kearns-Sayre syndrome (KSS) is a disorder caused by mutations in mitochondrial DNA. Here, we report an unusual case of Kearns-Sayre syndrome accompanied by hypopituitarism (deficiencies in reproductive and growth hormones). A 20-year-old male presented with growth retardation for the last 8 years, as well as the following findings: short stature, delayed puberty, myasthenia, an extraocular movement deficit, drooping eyelids, pectus carinatum and scoliosis. Cerebral enhanced magnetic resonance imaging revealed dysplasias of the pituitary, white matter and cerebellum. Laboratory work-up showed subnormal testosterone and growth hormone levels, a subnormal testicular volume, sensorineural deafness, pigmentary retinopathy, complete right bundle branch block and left anterior bundle branch block. Pathological examination revealed ragged red muscle fibres. Thus, this rare case involved the coexistence of Kearns-Sayre syndrome and hypopituitarism in a patient. Administration of coenzyme Q10 for the KSS and hormone replacement therapy for the endocrinopathies were performed for treatment of this patient.
卡恩斯-塞尔综合征（KSS）是一种由线粒体DNA突变引起的疾病。在此，我们报告一例罕见的卡恩斯-塞尔综合征病例，该病例伴有垂体功能减退（生殖激素和生长激素缺乏）。一名20岁男性在过去8年中出现生长发育迟缓，并伴有以下症状：身材矮小、青春期延迟、肌无力、眼球运动障碍、眼睑下垂、鸡胸和脊柱侧弯。脑部增强磁共振成像显示垂体、白质和小脑发育异常。实验室检查显示睾酮和生长激素水平低于正常，睾丸体积低于正常，感音神经性耳聋，色素性视网膜病变，完全性右束支传导阻滞和左前束支传导阻滞。病理检查发现破碎红肌纤维。因此，该罕见病例涉及一名患者同时患有卡恩斯-塞尔综合征和垂体功能减退。针对该患者，给予辅酶Q10治疗KSS，并给予激素替代疗法治疗内分泌疾病。
