云南省部分地区新生儿先天性甲状腺功能减低症筛查结果分析

目的 总结并分析云南省部分州市先天性甲状腺功能减低症(CH)的筛查结果.方法 对2012 年7 月至2014 年4 月在云南省昭通市、曲靖市、丽江市和迪庆藏族自治州四地出生的活产婴儿236 218 例进行CH 筛查,其中男121 463 例,女114 755 例.初筛足跟血促甲状腺激素(TSH)≥ 8 μIU/L 者原血片重新复查,复查后仍为阳性者召回进一步测定静脉血TSH 和游离甲状腺素(FT4)以明确诊断.结果 236 218 名新生儿中,血片合格率为96.67%,不合格血片补采率为81.75%,初筛阳性召回率为73.02%.确诊CH 66 例,其中男性36 例,女性30 例(P>0.05).CH 发病率为1: 3 579,显著低于全国平均发病水平(1/2 034,P<0.01).患儿出生胎龄多为37~42 周,>42 周者只占3%;大部分患儿出生体重在正常范围;出生身长<50 cm 者占32%.结论 云南地区CH 发病率低于全国平均水平;CH 患儿临床特征无特异性;云南地区新生儿疾病筛查工作质量还需要进一步提高.     

先天性甲状腺功能减低症筛查及治疗效果分析

目的了解先天性甲状腺功能减低症(CH)的筛查及替代治疗结果。方法回顾性分析2003年7月—2015年7月采用时间分辨荧光免疫法测定新生儿促甲状腺激素(TSH)水平筛查CH的资料;阳性召回的可疑患儿采用化学免疫发光法测定血清甲状腺功能,确诊者予左旋甲状腺素钠替代治疗并定期随访。结果 12年来共筛查新生儿1 228 289例,确诊950例,CH发病率1/1 293。接受正规治疗、随访满2年及以上的635例CH患儿中,488例(76.85%)为永久性CH,147例(23.15%)为暂时性CH。CH患儿随访至1岁和3岁时,体格生长和发育商(DQ)无异常。结论新生儿筛查可早期诊断CH,早期实施替代治疗。     

68例先天性甲状腺功能减低症的早期临床表现及治疗分析

目的探讨新生儿筛查及早期治疗甲状腺功能减低（甲低）的意义。方法对深圳市2005年9月～2006年12月新生儿先天性甲低筛查、治疗及随访情况进行分析总结。结果甲低患儿均在生后50d内进行治疗，体格和智力发育均达到同龄儿童水平。结论新生儿疾病筛查能早期发现甲低患儿。早期诊断、及时治疗，使其正常生长发育，从而减少残疾儿的发生，是提高人口素质的重要措施。     

先天性甲状腺功能减低症筛查和结果分析处理

先天性甲状腺功能减低症(以下简称甲低)是我国新生儿疾病筛查的一种重要疾病,通过筛查可获得早期诊断、治疗以及良好预后。我国从1981年开始开展新生儿疾病筛查,目前正在由大城市向中小城市推广,由经济较发达的沿海地区向内地发展。近年通过大力推广,全国已建立了上     

湖南省9万例新生儿先天性甲状腺功能减低症筛查

目的　先天性甲状腺功能减低症 (CH)是一种严重危害儿童健康、但早期诊治可以有效防治的疾病 ,1 996年以来 ,该院开展了新生儿CH筛查工作 ,现总结 7年来筛查结果 ,以了解湖南省新生儿CH的发生情况。方法　对 91 375例新生儿在生后 72h后或母乳喂养 2 4h后采足跟血 ,采用时间分辨荧光免疫法测定足跟血TSH浓度进行初筛 ,并用化学发光法检测初筛阳性患儿血清中TSH、FT3、FT4以确诊。确诊为CH者立即给予口服甲状腺素片治疗并定期随访。结果　TSH初筛 2 80例阳性 ,初筛阳性率为 1 /32 9,确诊先天性甲低 5 6例 ,发病率为1 /1 6 32。经治疗的患儿智能体格发育均正常。结论　新生儿筛查是早期发现、及时诊断和治疗CH的重要措施 ,能有效地改变患儿的预后     

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。     

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。     

宁夏2007—2010年新生儿先天性甲状腺功能减低症和苯丙酮尿症筛查情况分析

目的分析宁夏新生儿先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)的筛查和治疗情况。方法 2007年8月至2010年12月宁夏新生儿疾病筛查中心对新生儿采用时间分辨荧光免疫法测定促甲状腺素浓度,采用荧光免疫法测定苯丙氨酸浓度。回顾性分析CH和PKU检出率和治疗情况。结果 2007—2010年共筛查新生儿70491名,每年筛查的新生儿数分别为2154、9496、10841、47680名。共确诊CH17例,治疗13例,患病率0.24‰,治疗率76.5%;确诊PKU23例,治疗20例,患病率0.33‰,治疗率87.0%。结论宁夏新生儿疾病筛查工作近几年发展较快,筛查人数逐年增加,新生儿疾病筛查可使患儿得到早期诊治。     

中山市先天性甲状腺功能减低症筛查及治疗效果分析

目的总结先天性甲状腺功能减低症(CH)筛查状况,并分析替代治疗疗效。方法采用时间分辨荧光免疫法测定新生儿滤纸干血片标本的促甲状腺激素(TSH)水平,阳性者召回并采用化学发光法检测静脉血TSH、游离甲状腺素以确诊。选取经确诊CH并规范治疗2年的永久性CH患儿54例(CH组)及正常健康儿童120例(对照组),两组均长期监测体格发育,并于6月龄、24月龄时采用Gesell婴幼儿发育量表及儿童气质量表分别评估神经运动发育水平及气质特征。结果共筛查新生儿285242例,确诊140例,CH发病率1/2037。CH组及对照组的年龄别身高Z评分(LAZ)及年龄别体质量Z评分(WAZ)差异无统计学意义(P均0.05);6月龄、24月龄时CH组Gesell总发育商与对照组差异无统计学意义(P均0.05),但大运动发育商均落后于对照组,差异有统计学意义(P均0.05);6月龄、24月龄时,CH组和对照组气质类型的分布差异有统计学意义(P均0.05);相比对照组,CH组中难养型及中间偏难养型的比例较高。CH组与对照组在活动水平、适应性、反应强度及坚持性四个维度的得分差异有统计学意义(P均0.05)。结论 CH患儿经早期替代治疗后体格生长及神经运动发育基本正常,但尚需关注其心理行为问题。     

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.     

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。     

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.     

新生儿先天性甲状腺功能低下症的筛查与治疗评估

目的探讨先天性甲状腺功能低下症(甲低)的筛查、治疗方法和随访及疗效评估。方法采用时间分辨荧光免疫法检测滤纸血斑中促甲状腺素(TSH)水平;对召回的可疑患儿,采用化学发光免疫法检测血清甲状腺功能,确诊后予以左甲状腺素钠治疗,正规治疗2~3年后,停药观察,结合甲状腺核素扫描或超声检查、智力测定、骨龄检测及体格检查,进行疗效评估。结果筛查新生儿557 193例,检出甲低339例,发病率1/1644。其中治疗满18个月以上221例(治疗18个月~2年34例、2~3年112例、>3年75例)。甲状腺核素扫描100例,超声检查150例(2项均检查29例):甲状腺异常48例(缺如、异位各8例,发育不良32例);正常173例。发育商>85者98.6%,平均106.5;骨龄发育正常75%,稍落后25%;身高与体质量均达正常。治疗评估:48例确诊为原发性甲低,予终身治疗;173例暂时性甲低,其中86例停药观察,可终止治疗69例,确诊为暂时性甲低;重新恢复治疗9例,确诊为亚临床甲低;继续随访8例。结论开展新生儿疾病筛查,结合安全有效的治疗和规范的随访,完全能预防智残疾病发生和保障儿童体格和智能正常发育。     

Multivariate Analysis of Psychomotor Development in Congenital Hypothyroidism

ABSTRACT. In the Finnish programme of screening for congenital hypothyroidism (CUT), thyroid replacement therapy is started very early (at a median age of 6 days). Our experience with the first 50 patients detected by this programme confirms that clinically relevant mental retardation is avoided by early therapy. But some intrauterine damage is inevitable and its degree correlates with the severity of the CHT. Age at the start of therapy, in our narrow range, did not appear to influence the outcome, as we found only a paradoxical positive correlation between the two. Our results suggest that thyroid hormone is transferred from the mother to her hypothyroid child during delivery.     

Congenital hypothyroidism with delayed rise in serum TSH missed on newborn screening

We report on a female patient with congenital hypothyroidism (CH) missed on a newborn screening test. She is now 10 years old with retarded development. The patient was born premature at 34 weeks of gestation with birth-weight of 1515 g, and was judged to be normal in the screening programme of Niigata Prefecture. However, she gradually suffered from poor weight gain and retarded development with stridor at breathing. Serum thyroid stimulating hormone (TSH) levels were rechecked and showed high values with normal T3 and T4 levels. She was referred to our hospital at the age of 13 months. She was diagnosed as having CH (ectopic thyroid) with a delayed rise in blood TSH concentration, probably due to the prematurity of the hypothalamic-pituitary-thyroid axis. l -thyroxine therapy brought a decline in TSH levels with partial improvement of her symptoms. Regardless of the result of newborn screening, infants with elevated serum TSH levels should be carefully examined for possible CH, even when T3, T4 and free T4 values are in the normal range.     

Retrospective Analysis of Infants Designated as Positive on Mass-Screening for Congenital Hypothyroidism at Kagoshima University

Mass-screening for congenital hypothyroidism has identified cases of mild hypothyroidism, transient hypothyroidism, and transient hyperthyrotropinemia as well as typical hypothyroidism. In this paper, we examine the clinical data of the cases found positive in the screening test at our hospital. From 1989 to 1999 there were 72 patients with positive screening tests who started levothyroxine sodium (l-T4; Thyradin-S) as supplement therapy. At the age of 3 to 4 yr the patients were re-evaluated to determine whether treatment should be continued. Thyroid scintigraphies were done at the same time. We divided these cases into 4 groups. Those in group 1A started l-T4 in early infancy without a TRH test because of obvious clinical evidence of hypothyroidism, and treatment was continued after re-evaluation (n=37). Those in group 1B also started treatment in early infancy without a TRH test, but treatment was discontinued after re-evaluation (n=20). Patients in group 2A started l-T4 after evaluation by a TRH test and treatment was continued after re-evaluation (n=14), while those in group 2B started treatment after a TRH test, but after re-evaluation, treatment was discontinued (n=1). In group 2A, only a low dose of l-T4 was needed, and a slightly elevated TSH and slightly decreased free T4 (FT4) were observed after the drug washout period. However, these patients had an exaggerated response to the TRH test at re-evaluation. These findings indicate that this group, forming not a small part of whole screening-positive subjects, had mild hypothyroidism. Such patients require careful follow-up and repeated evaluation to determine whether treatment should be continued.     

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.