Objective To understand the status of endemic cretinism in Southern Xinjiang,and to put forward effective measures for diagnosis,prevention and control of the disease.Methods Follow-up visits were carried out to patients of endemic cretinism that at risk from 2006 to 2009,eliminating death and emigration cases of previous findings,increasing new cases,and all of the patients were conducted epidemiological survey and physical examination.Research contents included the history of patient's general situation,cousin marriage,family history,physical examination including mental retardation,hearing speech disorders in patients with thyroid function,nervous system disorder,thyroid palpation,low performance and cretinism faces,at the same time,a 3 ml venous blood sample was used to determine the thyroid function index.Results Totally 216 cases of endemic cretinism patients from 16 counties of Southern Xinjiang were confirmed,including 122 males and 94 females,aged between 11-20 years old.Neural endemic cretinism patients (167) were in the majority;its main performances were mental retardation,hearing speech disorders and nervous system disorders.Gummy swollen endemic cretinism patients(22) had thyroid hypofunction,but no nervous system disorders.Hybrid endemic cretinism patients (27) had manifestations of the neural and gummy swollen.Thyroid function index inspection results showed that the neural and hybrid endemic cretinism patients triiodothyronine [(2.41 ± 0.48),(2.38 ± 0.38) nmol/L],thyroxine [(118.72 ± 20.92),(120.77 ±21.55) nmol/L],free triiodothyronine [(5.25 ± 0.98),(5.14 ± 0.83) pmol/L],and free thyroxine [(15.81 ± 2.60),(15.58 ±2.99) pmol/L] were higher than those of gummy swollen patients [(1.51 ± 0.73),(39.25 ± 16.95) nmol/L,(3.02 ± 1.05),(6.42 ± 1.99) pmol/L,all P ＜ 0.05],but thyroid stimulating hormone [(2.26 ± 1.04),(2.83 ± 0.91) mU/L] was lower than that of gummy swollen patients [(58.56 ± 24.83) mU/L,P ＜ 0.05].Gummy swollen patients bad typical hypothyroidism,which was conformed to clinical manifestations,and all three types of patients had low thyroid antibody positive rate.Conclusions Southern Xinjiang is the prevalence area of endemic cretinism,the work of prevention and control has a long way to go,in addition to the need to improve the environmental iodine deficiency,it is urgent to improve the level of people's economy.%目的 了解新疆南疆地区地方性克汀病的流行现状,为该病的诊断与防控提供参考和有效措施.方法 以2006-2009年新疆南疆地区碘缺乏病高危调查在册的地方性克汀病患者作为主要随访对象,除去以往调查结果的死亡、迁出、失联病例,增加新发病例,对所有患者进行流行病学问卷调查及体检.调查内容包括患者的一般情况、近亲婚史、家族史,体检内容包括患者的智力障碍、听力言语障碍、神经系统障碍、甲状腺触诊、甲状腺功能低下表现以及克汀病面容,同时抽取静脉血3ml测定其甲状腺功能指标.结果 共确诊新疆南疆地区16个县市216例地方性克汀病患者,其中男性122例,女性94例,年龄分布主要集中在11～20岁.各型患者中以神经型克汀病患者(167例)居多,主要表现为智力障碍、听力言语障碍以及神经系统障碍;黏夜水肿(黏肿)型克汀病患者(22例)以甲状腺功能低下表现为主,无神经系统障碍;混合型克汀病患者(27例)兼具神经型和黏肿型两者的临床表现.甲状腺功能指标检查结果显示,神经型和混合型克汀病患者三碘甲状腺原氨酸(triiodothyronine,T3)含量[(2.41±0.48)、(2.38±0.38) nmol/L]、甲状腺素(thyroxine,T4)含量[(118.72±20.92)、(120.77±21.55) nmol/L]、游离三碘甲状腺原氨酸(free triiodothyronine,FT3)含量[(5.25±0.98)、(5.14±0.83) pmol/L]、游离甲状腺素(free thyroxine,FT4)含量[(15.81±2.60)、(15.58±2.99) pmol/L]均高于黏肿型患者[(1.51±0.73)、(39.25±16.95) nmol/L,(3.02±1.05)、(6.42±1.99) pmoL/L,P均＜0.05],而促甲状腺激素(thyroid stimulating hormone,TSH)含量[(2.26±1.04)、(2.83±0.91) mU/L]低于黏肿型患者[(58.56±24.83)mU/L,P＜0.05].黏肿型患者呈现典型的甲状腺功能减退症状,和临床表现相符合,三种类型的患者均具有较低的甲状腺抗体阳性率.结论 新疆南疆地区是地方性克汀病的流行地区,防控工作任重道远,除需要改善外环境缺碘,提高人民经济水平也刻不容缓.
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