Bolu F, Bolu S
Adıyaman Provincial Health Directorate.
Adıyaman Training and Research Hospital, Department of Pediatric Endocrinology, Adıyaman, Turkey.
Acta Endocrinol (Buchar). 2024 Apr-Jun;20(2):201-206. doi: 10.4183/aeb.2024.201. Epub 2025 Jan 18.
Congenital hypothyroidism (CH) is one of the most common preventable causes of intellectual disability, and can be diagnosed in the early period through neonatal screening programs.
The purpose of this study was to determine the prevalence of CH and recall rates in the province of Adıyaman.
This retrospective study evaluated the data of newborn screening program in Adıyaman province between January 2015 and December 2020.
The thyroid-stimulating hormone (TSH) cut-off value in the screening program is 5.5 mIU/L and TSH values lower than 5.5 mIU/L are regarded as normal. Babies with TSH levels exceeding 5.5 mIU/L were defined as 'recalled'. TSH measurements and clinical diagnoses of the recalled babies were evaluated.
TSH was <5.5 mIU/L in 62270 (90.08%) of the newborns, 5.5-20 mIU/L in 6114 (8.84%), and >20 mIU/L in 742 (1.07%). Venous T4-TSH values were normal in 673 of the 742 babies with TSH levels exceeding 20 mIU/L, while 63 babies were diagnosed with CH. Heel blood results were normal in 5880 of the 6114 babies with TSH levels of 5.5-20 mIU/L and for whom repeat heel blood was requested. TSH levels in repeat heel blood were >5.5 mIU/L in 184 babies and 93 of them were diagnosed with hypothyroidism. The recall rate among babies undergoing heel blood TSH measurement in the province of Adıyaman was 9.9%. 156 babies were started on thyroid replacement therapy with diagnoses of CH. The incidence of babies diagnosed with hypothyroidism was 1/443.
According to the CH screening results, the recall rate and incidence of CH in the province of Adıyaman were higher than the global general figures. Both the low TSH threshold value employed in neonatal hypothyroidism screening and the province falling within the iodine deficiency region may account for this.
先天性甲状腺功能减退症(CH)是智力残疾最常见的可预防病因之一,可通过新生儿筛查项目在早期进行诊断。
本研究旨在确定阿迪亚曼省CH的患病率和召回率。
这项回顾性研究评估了2015年1月至2020年12月阿迪亚曼省新生儿筛查项目的数据。
筛查项目中促甲状腺激素(TSH)的临界值为5.5 mIU/L,TSH值低于5.5 mIU/L被视为正常。TSH水平超过5.5 mIU/L的婴儿被定义为“召回”。对召回婴儿的TSH测量值和临床诊断进行评估。
62270名(90.08%)新生儿的TSH<5.5 mIU/L,6114名(8.84%)新生儿的TSH为5.5 - 20 mIU/L,742名(1.07%)新生儿的TSH>20 mIU/L。在TSH水平超过20 mIU/L的742名婴儿中,673名婴儿的静脉血T4 - TSH值正常,63名婴儿被诊断为CH。在6114名TSH水平为5.5 - 20 mIU/L且被要求重复足跟血检测的婴儿中,5880名婴儿的足跟血结果正常。184名婴儿重复足跟血检测的TSH水平>5.5 mIU/L,其中93名被诊断为甲状腺功能减退症。阿迪亚曼省接受足跟血TSH检测的婴儿召回率为9.9%。156名婴儿被诊断为CH并开始接受甲状腺替代治疗。被诊断为甲状腺功能减退症的婴儿发病率为1/443。
根据CH筛查结果,阿迪亚曼省CH的召回率和发病率高于全球总体数据。这可能是由于新生儿甲状腺功能减退症筛查中采用的TSH阈值较低以及该省属于碘缺乏地区。