Goday-Arno Alberto, Cerda-Esteva Mariaina, Flores-Le-Roux Juana Antonia, Chillaron-Jordan Juan José, Corretger Josep Maria, Cano-Pérez Juan Francisco
Endocrinology and Diabetes Unit, Hospital Universitari del Mar, Universitat Autonoma de Barcelona, Barcelona, Spain.
Clin Endocrinol (Oxf). 2009 Jul;71(1):110-4. doi: 10.1111/j.1365-2265.2008.03419.x. Epub 2008 Sep 12.
Thyroid disorders are frequent in patients with Down syndrome (DS). It is well-known that the prevalence of hypothyroidism is high but data on hyperthyroidism are scarce.
To assess the prevalence, aetiology, clinical characteristics, evolution and treatment of hyperthyroidism in a population with DS attending a specialized medical centre.
Data were gathered by systematic review of 1832 medical records from the Catalan DS Foundation, in Spain, registered between January 1991 and February 2006. Patients with the diagnosis of hyperthyroidism were identified and data on clinical features, physical examination, laboratory and imaging tests, treatment and evolution were collected.
Twelve patients with hyperthyroidism were recorded (6.5 cases/1000 patients with DS). There were 5 males and 7 females, with a mean age at diagnosis of 16.8 years. The most common presenting symptoms were decreased heat tolerance, sweating, increased irritability and weight loss. All patients had diffuse goitre at physical examination and two patients presented with exophthalmia. Clinical diagnosis was confirmed biochemically. Thyroid-stimulating immunoglobulin levels were raised (mean 128.1 U/l) and imaging tests confirmed the diagnosis of Graves' disease in all cases. Patients started treatment with carbimazole at diagnosis and after a mean period of 40 months without clinical remission, they required definitive therapy with radioactive iodine. Subjects developed hypothyroidism after radio-iodine therapy and replacement therapy with levothyroxine was necessary.
Hyperthyroidism is more prevalent in patients with DS than in the general population and has no gender predominance. It is caused mainly by Graves' disease. Anti-thyroid drugs were not effective in achieving remission and radioactive iodine as a definitive treatment was required in all cases.
唐氏综合征（DS）患者中甲状腺疾病很常见。众所周知，甲状腺功能减退的患病率很高，但关于甲状腺功能亢进的数据却很少。
评估在一家专业医疗中心就诊的唐氏综合征患者群体中甲状腺功能亢进的患病率、病因、临床特征、病情发展及治疗情况。
通过系统回顾西班牙加泰罗尼亚唐氏综合征基金会1991年1月至2006年2月间登记的1832份病历收集数据。确定诊断为甲状腺功能亢进的患者，并收集有关临床特征、体格检查、实验室及影像学检查、治疗和病情发展的数据。
记录到12例甲状腺功能亢进患者（6.5例/1000例唐氏综合征患者）。男性5例，女性7例，诊断时的平均年龄为16.8岁。最常见的症状是耐热性下降、出汗、易怒增加和体重减轻。所有患者体格检查时均有弥漫性甲状腺肿大，2例患者有突眼。临床诊断经生化检查得以证实。促甲状腺素受体抗体水平升高（平均128.1 U/l），影像学检查在所有病例中均确诊为格雷夫斯病。患者诊断时开始用卡比马唑治疗，平均40个月无临床缓解后，需要用放射性碘进行确定性治疗。患者放射性碘治疗后出现甲状腺功能减退，需要用左甲状腺素进行替代治疗。
唐氏综合征患者中甲状腺功能亢进比普通人群更常见，且无性别优势。其主要由格雷夫斯病引起。抗甲状腺药物未能有效实现缓解，所有病例均需要用放射性碘进行确定性治疗。
