Kumorowicz-Czoch Malgorzata, Tylek-Lemanska Dorota, Starzyk Jerzy
Department of Pediatric and Adolescent Endocrinology, Polish-American Children's Hospital, Collegium.
J Pediatr Endocrinol Metab. 2011;24(3-4):141-5. doi: 10.1515/jpem.2011.080.
Congenital hypothyroidism (CH) affects approximately 1:3000-1:4000 infants.
To determine the prevalence of CH and isolated hyperthyrotropinemia (IHT) in newborns selected in mass screening for CH.
Mass screening of 233,120 neonates born in southeastern Poland was carried out and CH-suspected children were identified. Serum thyroid-stimulating hormone and free thyroxine levels were determined during first confirmation and diagnosis re-evaluation in 118 and 34 children, respectively. Additionally, the patients were subjected to thyroid ultrasonography (n=53) and/or scintiscan (n=28).
Out of 118 children, first confirmation indicated CH in 58 neonates and IHT in 4 neonates. Out of these, 34 were re-evaluated with regard to diagnosis. A final diagnosis of permanent CH was reported in 34 children with thyroid dysgenesis (n=27) or dyshormonogenesis (n=7), transient CH affected 15 children, and permanent IHT was diagnosed in 6 children. CH prevalence was 1:4570 (permanent 1:6475, transient 1:38,853) and permanent IHT 1:38,853.
The prevalence of CH and IHT corresponds to the prevalence of the condition in iodine-sufficient and borderline iodine-deficient areas.
先天性甲状腺功能减退症（CH）影响约1/3000 - 1/4000的婴儿。
确定在先天性甲状腺功能减退症大规模筛查中所选取新生儿的先天性甲状腺功能减退症（CH）和单纯性促甲状腺激素升高（IHT）的患病率。
对波兰东南部出生的233,120名新生儿进行大规模筛查，识别出疑似CH的儿童。分别在118名和34名儿童的首次确诊及诊断重新评估期间测定血清促甲状腺激素和游离甲状腺素水平。此外，对患者进行甲状腺超声检查（n = 53）和/或闪烁扫描（n = 28）。
在118名儿童中，首次确诊显示58名新生儿患有CH，4名新生儿患有IHT。其中，34名儿童进行了诊断重新评估。最终诊断为永久性CH的有34名儿童，病因是甲状腺发育不全（n = 27）或甲状腺激素合成障碍（n = 7），15名儿童患有暂时性CH，6名儿童被诊断为永久性IHT。CH患病率为1/4570（永久性1/6475，暂时性1/38,853），永久性IHT为1/38,853。
CH和IHT的患病率与碘充足及碘轻度缺乏地区该病的患病率相符。
