Zantour B, Messaoud R, Zouali M, Ladjimi A, Braham H, Hamza H, Zebidi A, Sfar M H
Service de médecine interne et endocrinologie, CHU Tahar Sfar, Mahdia, Tunisie.
Ann Endocrinol (Paris). 2003 Jun;64(3):205-9.
Werner's syndrome is a rare autosomal recessive disease caused by the mutation of DNA helicase gene (WRN), characterized by the premature onset of multiple age-related disorders and skin changes similar to those observed in scleroderma. Some endocrinologic and metabolic disorders have been described in patients with Werner's syndrome. We report one case in a 41-year-old man issuing from consanguineous parents, who presented for exploration of hypoglycemic episodes and sexual impotence. Werner's syndrome was diagnosed on the basis of his characteristic clinical appearance. Metabolic disorders were insulin-requiring diabetes and hypertriglyceridemia. Endocrinologic investigation revealed nodular goiter, sub clinical primary hypothyroidism, hypergonadotrophic hypogonadism,adrenal cortical hypofunction and GH deficiency. Pathology examination of the skin biopsy showed a scleroderma-like aspect. Finally, osteoporosis, atherosclerosis and sub-capsular cataract were associated. Thus, in Werner's syndrome metabolic and endocrinologic investigation is necessary in order to treat these disorders and improve the patient's prognosis and life.
沃纳综合征是一种由DNA解旋酶基因（WRN）突变引起的罕见常染色体隐性疾病，其特征为多种与年龄相关的疾病过早发作，以及出现类似于硬皮病的皮肤变化。沃纳综合征患者中已描述了一些内分泌和代谢紊乱情况。我们报告一例41岁男性病例，其父母为近亲结婚，该患者因低血糖发作和性功能障碍前来检查。根据其典型临床表现诊断为沃纳综合征。代谢紊乱为需胰岛素治疗的糖尿病和高甘油三酯血症。内分泌检查发现结节性甲状腺肿、亚临床原发性甲状腺功能减退、高促性腺激素性性腺功能减退、肾上腺皮质功能减退和生长激素缺乏。皮肤活检的病理检查显示为硬皮病样外观。最后，该患者还伴有骨质疏松、动脉粥样硬化和晶状体囊下白内障。因此，对于沃纳综合征患者，进行代谢和内分泌检查对于治疗这些疾病、改善患者预后和生活质量是必要的。
