河南省新生儿先天性甲状腺功能低下症筛查及病因调查

目的研究河南省先天性甲状腺功能低下症（甲低,CH）的发病情况及发病原因。方法采用时间分辨免疫荧光法检测1998年1月-2004年12月河南省156家医院非选择性出生的新生儿33.8万例血促甲状腺素（TSH）水平,筛查阳性者召回,用直接化学发光免疫分析法测定其静脉血清T3、T4、TSH水平,以T3、T4低于正常、TSH水平高于正常者确诊为CH患儿,通过对CH患儿及其父母召回进行问卷调查和生长发育、智力测量及相关医学检查,寻找其发病原因及发病的高危因素。结果河南省新生儿CH筛查平均覆盖率5.93%,确诊CH 109例,发病率0.032%。CH患儿109例甲状腺部位正常,发育良好。在有高血压、糖尿病、畸形或智力低下家族史或母孕期有不良情况者中CH发病率较高。结论河南省CH患儿发病可能与甲状腺的缺如和异位无关,可能为激素的合成障碍或受体缺陷所致。     

中国新生儿先天性甲状腺功能低下症与苯丙酮尿症筛查22年回顾

目的 总结我国开展新生儿筛查的情况,探讨我国新生儿筛查中存在的问题和对策.方法 回顾性分析我国新生儿筛查的发展历史、模式、筛查方法 、治疗随访与患病率等临床资料.结果我国新生儿筛查从1985年开始全面开展,筛查和治疗主要分为3种模式,目前筛查覆盖率还较低.1985至2006年共有13 229 242例新生儿参加了先天性甲状腺功能低下症(CH)的筛查,检出患儿6505例,患病率为49.2/10万,同时对13 666 750例新生儿进行了苯丙酮尿症(PKU)筛查,检出患儿1170例,患病率为8.6/10万.全国CH患病率呈上升趋势,且西部地区患病率较高,而全国PKU患病率相对较稳定.结论新生儿筛杏是预防CH和PKU患儿智力和体格发育落后的关键.应进一步提高新生儿筛查的覆盖率、筛查率和治疗率,加强健康教育,普及新生儿筛查知识,积极探索筛查新技术.     

广州地区7780名新生儿中先天性甲状腺功能低下症的筛查

先天性甲状腺功能低下症(简称甲低)的早期症状多不典型,如能在新生儿期进行甲低筛查,作出诊断和治疗,对于避免由于甲低所致的生长发育和智力障碍都有重要意义。现将我组于1986年9月至     

婴儿先天性甲状腺功能低下症的误诊原因分析

先天性甲状腺功能低下症 (甲低 )早期临床表现不典型 ,尤其婴儿 ,易误诊或漏诊 ,其疗效又与确诊早晚关系密切。因此 ,早期诊断非常重要 ,笔者对我院 1986年 10月～ 2 0 0 1年 10月未能及时诊断的 14例婴儿甲低进行分析 ,并探讨其原因。资料与方法一、一般资料　经甲状腺功能检查确诊且治疗有效住院的甲低患儿 10例和门诊 4例 ,男 5例 ,女 9例 ;18d～ 3个月3例 ,～ 6个月 2例 ,～ 9个月 4例 ,～ 12个月 5例。误诊时间3d～ 11个月 ,其中 8例误诊时间超过 3个月。该组居住地均为非地方性甲状腺肿流行区 ,父母非近亲婚配 ,无甲状腺疾病史。二、…     

新生儿先天性甲状腺功能减低症的诊断与治疗

先天性甲状腺功能减低症是导致儿童智力发育迟缓的病因之一,早期诊断及治疗能改善预后。新生儿筛查是早期诊断该症的有效方法,新生儿期足量甲状腺素替代治疗、正确调整剂量,能使患儿的智力和体格发育达到同龄健康儿童水平。     

连云港地区新生儿先天性甲状腺功能减低症及苯丙酮尿症筛查分析

目的 探讨连云港地区新生儿先天性甲状腺功能减退症（CH）及苯丙酮尿症（PKU）发病及分布特征。方法 采集生后72h新生儿155091例足跟血于干血滤纸片上。PKU采用盖氏细菌抑制法测血苯丙氨酸（Phe）水平、CH采用酶联免疫吸附试验（ELISA）或时间分辨荧光免疫法（TRFIA）测促甲状腺素（TSH）作为筛查指标。结果 确诊CH患儿64例，发病率4．126／万（1：2423）：经甲状腺核素显像41例，其中甲状腺异常23例（56％）；64例分布在全市的4县3个城区的45个乡镇（街道），男女性别和城乡发病率均无差异（P均〉0．05），发现1对双胞胎CH患儿；确诊苯丙酮尿症患儿15例，发病率为0．967／万（1：10339）：以上患儿父母未见近亲结婚和显性遗传家族史，母孕期正常，经干预治疗，患儿身体和智力发育与同龄儿比较无显著差异。结论 CH、PKU在连云港地区呈散发性分布，进行新生儿筛查是发现CH、PKU的唯一有效手段。     

甲状腺相关基因突变与先天性甲状腺功能低下症

先天性甲状腺功能低下症(CH)是引起儿童生长和神经发育障碍的常见内分泌疾病,主要由先天性甲状腺发育异常或甲状腺激素合成异常所致。近年来研究发现,部分CH患者存在甲状腺发育或甲状腺素合成相关基因的突变,文章就上述基因的生物学功能,基因突变患者的临床特征作一介绍。     

北京地区6134例新生儿先天性甲状腺功能低下的筛查

对北京地区6134例新生儿进行先天性甲状腺功能低下的筛查。结果表明其发病率为1/3067,较上海天津等地区高,应予重视。假阳性值多与宫内缺氧、早产、低出生体重儿及双胎有关,多数于1个月内恢复正常。     

先天性甲状腺功能低下症对新生儿左心功能的影响

目的　评价先天性甲状腺功能低下症 (CH)新生儿的左心收缩和舒张功能变化 ,并探讨其与血甲状腺激素水平的相关性。方法　对 35例确诊为CH的新生儿和 30例正常新生儿进行超声心动图检查 ,分别用M型超声心动图测量左室射血分数 (LVEF)、左室短轴缩短率 (LVFS) ;脉冲多普勒 (PWD)测量二尖瓣口血流舒张早期峰值速度 (Em)、二尖瓣口血流舒张晚期峰值速度 (A m) ;定量组织速度成像 (QTVI)测量二尖瓣环收缩期运动峰值速度 (sm)、二尖瓣环舒张早期运动峰值速度 (em)、二尖瓣环舒张晚期运动峰值速度 (am) ;组织追踪显像 (TTI)测量收缩期二尖瓣环下移距离 (MAD) ,并对血甲状腺激素水平和心功能指标行相关性分析。结果　两组间收缩功能指标LVEF、LVFS、sm、MAD及舒张功能指标Am、Em/Am、、em/am、、Em、em 差异均有显著性意义 (P <0 0 5 ) ,其中两组间MAD、sm、Em、em 差异有极显著性意义 (P <0 0 0 1)。心脏收缩功能指标LVEF、sm、MAD及舒张功能指标Em、Am、em、em/am 与TT3 、TT4呈正相关 (P <0 0 5 ) ,与TSH呈负相关 (P <0 0 5 ) ,MAD、sm、Em、em 与血TT4、TSH水平的相关性最好 (P <0 0 0 1)。结论　先天性甲状腺功能低下症新生儿常伴有左心收缩和舒张功能下降 ,血甲状腺激素水平可直接影响左心功能 ,QTVI     

先天性甲状腺功能减低症治疗时机的疗效评估

目的 探讨小儿先天性甲状腺功能减低症(以下简称先天性甲低)治疗时机评估及其与预后情况.方法 对1998年5月至2008年12月在广东省深圳市人民医院儿科内分泌专科门诊就诊的68例治疗随访时间超过2年的先天性甲低患儿的体格检查和智能测定进行分析,以评估不同治疗时机对其预后的影响.筛查组47例,开始治疗年龄13～59 d;非筛查组21例,开始治疗年龄6个月至14岁.结果 先天性甲低患儿的身高、体重与智能发育筛查组与非筛查组比较差异有统计学意义(P均<0.01),遗留智能残疾的发生率两组比较差异亦有统计学意义(P<0.01).结论 对先天性甲低患儿实施治疗的时间越旱,智能发育和体格发育越好,遗留智能残疾的发生率越低.     

先天性甲状腺功能减退症新生儿心电图改变的意义

目的评价先天性甲状腺功能减退症(CH)新生儿的心电图(ECG)改变,及与血清甲状腺激素(TH)水平的相关性,探讨TH减少对新生儿心脏电生理活动的影响。方法对50例CH新生儿(日龄17～28d)和35例健康新生儿(健康对照组)进行常规十二导联ECG检查,分别检测心率(HR)、PR间期(PR)、QT间期(QT)、QRS波电轴(QRSa)、QRS波时限(QRS)、校正QT间期(QTC)等,同时用化学发光法测定血清游离三碘甲状腺原氨酸(FT3)、游离甲状腺素(FT4)、总三碘甲状腺原氨酸(TT3)、总甲状腺素(TT4)和促甲状腺素(FSH)水平,对心电图指标和血TH水平行相关性分析。结果与健康对照组相比,CH组血清FT3、FT4、TT3、TT4水平显著降低,TSH水平显著升高(Pa<0.001);CH组HR显著低于健康对照组,PR及QT较健康对照组显著延长(Pa<0.05),但二组QRSa、QRS及QTC差异均无统计学意义(Pa>0.05)。HR与FT3、FT4呈显著正相关,与TSH呈显著负相关(Pa<0.05);PR间期与FT3、FT4、TT4呈显著负相关,与TSH呈显著正相关(Pa<0.05);但QT、QRS、QRSa及QTC与血TH水平均无明显相关(Pa>0.05)。结论CH可对新生儿窦房结起搏产生显著影响,引起心脏自律性改变,而心肌动作电位、房室传导等电生理活动则尚未受影响。     

单光子发射计算机断层显像对新生儿甲状腺功能减低的诊断价值

目的采用甲状腺单光子发射计算机断层显像(SPECT)探讨其对新生儿先天性甲状腺功能减低(甲低)的诊断价值。方法对经新生儿疾病筛查发现的19例甲低患儿,静脉注射99mTcO418.5～37.0MBq,15min后行甲状腺显像。结果甲状腺SPECT基本正常5例,单纯性肿大1例,肿大且放射性分布增加2例,异位、缺如各4例,显影不清3例。结论甲状腺SPECT对甲低原因如甲状腺发育不全、缺如和异位等可做出满意的判断,结合甲状腺显像和血清T3、T4、TSH检查,对新生儿甲低诊断具有重要意义。     

南京地区1998-2009年新生儿先天性甲状腺功能减低症筛查及治疗随访结果分析

目的 总结并分析1998年1月- 2009年12月南京地区新生儿先天性甲状腺功能减低症(CH)的筛查结果.方法 采集出生72 h新生儿442 454例的足跟血滴于滤纸上,采用时间分辨免疫法测定滤纸血斑促甲状腺激素(TSH),阳性者召回进一步测定静脉血TSH、三碘甲状腺原氨酸(T3)、四碘甲状腺原氨酸(T4)、游离T3(FT3)、游离T4(FT4)以明确诊断.确诊者立即开始予左旋甲状腺素片(4.3～12.0μg·kg-1·d-1)替代治疗,定期监测其甲状腺功能,测量其身高、体质量,其中68例患儿子智力测试,以评估疗效.结果 12 a共筛查442 454人,确诊CH 183例,发病率为0.41‰,对117例进行随访.初始治疗时间的中位数为18 d(7～67d),初始左旋甲状腺素的平均剂量为7.35 μg·kg-1·d-1.CH患儿的身高、体质量结果基本达到正常参照标准.盖泽尔婴幼儿发展量表(GESELL)测试结果显示1例智能发育落后,8例智能发育迟缓.T4、FT4的治疗前水平与患儿的GESELL测试总分、适应性及精细运动均呈正相关(Pa＜0.05).结论 经筛查确诊的CH患儿,应尽可能早地进行激素替代治疗,可有效改善其预后.因此新生儿筛查及随访治疗工作值得推广和完善.     

Congenital Hypothyroidism

Availability of sensitive radioimunoassays for T₄ and TSH has simplified the detection and treatment of congenital hypothyroidism. Early diagnosis by newborn screening and prompt treatment should minimize the serious complications of mental retardation. Absence of clear cut signs and symptoms early in the life requires laboratory testing for early diagnosis. The high cost effectiveness of the screening programme has resulted in the implementation of mass screening in many countries. Several studies indicate a favourable IQ with initiation of treatment before the age of 3 months. Neonatal laboratory screening programs have made it possible to initiate treatment before one month of age. This may further improve the outcome of this common cause of preventable mental retardation.     

Maternal TSH-Receptor Antibodies and TSH Antibodies in Screening for Congenital Hypothyroidism

ABSTRACT. Serum samples from 30 mothers who had given birth to at least one child with a positive neonatal thyrotropin (TSH) screening test were analysed for TSH-receptor antibodies. One mother with hypothyroidism after thyroiditis who had two sons who had had transient congenital hypothyroidism, showed significantly elevated concentrations of TSH receptor blocking IgG antibodies in her serum. The three daughters of another mother had neonatal hyper-thyrotropinaemia but normal thyroid hormone levels. This woman had elevated serum levels of TSH but was clinically and biochemically euthyroid. The apparent hyperthyrotropinaemia in this family was due to an artifact in the TSH radioimmunoassay caused by maternal anti-TSH IgG antibodies. It is obvious that placental transfer of maternal IgG antibodies to the thyroid TSH receptor is one cause of transient congenital hypothyroidism. Likewise, maternal IgG directed against TSH interferes with radioimmunoassays of TSH and the results may be falsely interpreted as hyperthyrotropinaemia. It is concluded that in neonatal hyperthyrotropinaemia analysis of the mother's serum is indicated, and that maternal TSH receptor blocking antibodies must be considered as a cause of congenital hypothyroidism, especially if the mother has a history of thyroid dysfunction.     

Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision)

Purpose of developing the guidelines: Mass screening for congenital hypothyroidism started in 1979 in Japan, and the prognosis for intelligence has been improved by early diagnosis and treatment. The incidence was about 1/4000 of the birth population, but it has increased due to diagnosis of subclinical congenital hypothyroidism. The disease requires continuous treatment, and specialized medical facilities should make a differential diagnosis and treat subjects who are positive in mass screening to avoid unnecessary treatment. The Guidelines for Mass Screening of Congenital Hypothyroidism (1998 version) were developed by the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology in 1998. Subsequently, new findings on prognosis and problems in the adult phase have emerged. Based on these new findings, the 1998 guidelines were revised in the current document (hereinafter referred to as the Guidelines). Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring patients to pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients.     

Psychomotor Development of Children with Congenital Hypothyroidism Diagnosed by Neonatal Screening

ABSTRACT. The psychomotor development in 68 children with congenital hypothyroidism diagnosed during the first two years of a nationwide neonatal screening programme in Sweden was assessed during their first three years of life. Replacement therapy with thyroxine was initiated at the age of 15±7 days (mean ± SD). Griffiths tests were performed in 15 patients at the age of 18 months and in 51 patients at 30–47 months. Their developmental quotients did not differ from those of control children, indicating that the psychomotor development in the children with congenital hypothyroidism was normal. In earlier studies of Swedish children with congenital hypothyroidism, diagnosed clinically before the age of three and a half years, the psychomotor development was found to be impaired. In contrast, the patients diagnosed by neonatal screening and given early therapy displayed normal results in Griffiths tests. This indicates that the age at the start of treatment is an important determinant for the prognosis.