Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe, Brazil

ABSTRACT Objectives To assess the evolution to permanent or transient conditions in children with positive neonatal TSH tests in Sergipe, Brazil, from 2004 to 2010. Subjects and methods Out of 193,794 screened newborns, 713 presented a neonatal TSH level higher than the local cutoff (5.2 µU/mL). From the confirmatory serum TSH values, the children were diagnosed with initial congenital hypothyroidism (CH) or suspect CH. From the evolution, they were classified as permanent CH, hyperthyrotropinemia, or transient TSH elevation. The mean incidence of each final condition was calculated for the total period of time. Results The initial diagnosis included 37 CH (18.1%) and 167 suspect CH (81.9%) cases. The final diagnosis included 46 cases of permanent CH (22.5%), 56 of hyperthyrotropinemia (27.5%), and 102 of transient TSH elevation (50.0%). Out of the 37 cases of initial CH, 23 (62.2%) had permanent CH, nine (24.3%) had hyperthyrotropinemia, and five (13.5%) had transient TSH elevation. Out of the 167 suspect CH cases, 23 (13.8%) had permanent CH, 47 (28.1%) had hyperthyrotropinemia and 97 (58.1%) had transient TSH elevation. The mean incidence after the follow up was 1:4,166 for permanent CH, 1:3,448 for hyperthyrotropinemia, and 1:1,887 for transient TSH elevation. Eighty-six percent of the children with an initial diagnosis of CH and 41.9% with suspect CH had a permanent condition (CH or hyperthyrotropinemia). Conclusions The follow-up of children with an initial diagnosis of CH or suspect CH is necessary to determine whether the disorder is permanent because predicting the evolution of the condition is difficult.

【摘要】
研究目的：评估巴西塞尔希培州2004年至2010年期间，新生儿促甲状腺激素（TSH）筛查结果阳性患儿的病情转归为永久性或暂时性异常的情况。
研究对象与方法：本研究共纳入193794名接受筛查的新生儿，其中713名新生儿的TSH水平高于当地临界值（5.2 µU/mL）。根据确诊血清TSH检测值，将患儿分为初始先天性甲状腺功能减低症（CH）组与疑似CH组；依据随访转归情况，进一步将其划分为永久性CH、高促甲状腺激素血症及暂时性TSH升高三类，并计算研究周期内各类最终转归状态的平均发病率。
研究结果：初始诊断共纳入37例CH患者（占比18.1%）与167例疑似CH患者（占比81.9%）。最终诊断结果显示：永久性CH 46例（22.5%）、高促甲状腺激素血症56例（27.5%）、暂时性TSH升高102例（50.0%）。在37例初始CH患儿中，23例（62.2%）最终确诊为永久性CH，9例（24.3%）为高促甲状腺激素血症，5例（13.5%）为暂时性TSH升高；在167例疑似CH患儿中，23例（13.8%）最终确诊为永久性CH，47例（28.1%）为高促甲状腺激素血症，97例（58.1%）为暂时性TSH升高。随访后的平均发病率为：永久性CH 1:4166，高促甲状腺激素血症1:3448，暂时性TSH升高1:1887。初始诊断为CH的患儿中有86%、疑似CH的患儿中有41.9%最终转归为永久性异常状态（CH或高促甲状腺激素血症）。
研究结论：由于难以预判患儿的病情转归，因此对初始诊断为CH或疑似CH的患儿开展随访以明确其病变是否为永久性，具有必要性。