ESPEYB15 13 Global Health for the Paediatric Endocrinologist Advances in the Diagnosis and Management of Congenital Hypothyroidism (5 abstracts)
13.16 Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015
Deng K , He C , Zhu J , Liang J , Li X , Xie X , Yu P , Li N , Li Q & Wang Y
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P.R.China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, P.R. China; Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, P.R. China
To read the full abstract: J Pediatr Endocrinol Metab 2018; 31(6):601-608
This article summarizes the findings of likely the largest program of neonatal congenital hypothyroidism (CH) screening in the world. This is a truly impressive effort. The overall incidence of CH was 1/2421, in line with other reports that also observed a relatively high incidence of CH in neonates born in Asia. However, a visual interpretation of Figure 2 suggests that about 1:10,000 neonates had a TSH between 10 and 20 mU/L. Several factors, duly acknowledged by the authors, make it difficult to determine which proportion of these abnormal TSH values were associated with permanent CH and whether all recalled neonates received L-thyroxine therapy, either for a few weeks or long-term.
A modest elevation of the TSH between 3 and 7 days of life (when screening was performed) could be due to several causes. First, although the National Iodine Deficiency Disorders Elimination Program, which was launched in China in 1993, successfully decreased the prevalence of goiter in schoolchildren from 20.4 percent in 1995 to 8.8 percent in 1999, it appears that areas of relative iodine deficiency are still present in costal regions of China. This could account for a high number of mildly elevated TSH observed in this program. Second, immaturity of the hypothalamo-pituitary-thyroid axis is commonly observed in preterm neonates. In 2010, prematurity was estimated to affect 7.8% of all Chinese neonates. Finally, in a Chinese population, heterozygosity for a common TPO gene founder mutation (2268insT) was found to be 16 times more common in infants with transient neonatal hypothyroidism. It will be important to address these questions in order to optimize the cost-effectiveness of this impressive investment by the Chinese Health authorities.
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ESPE Yearbook of Paediatric Endocrinology
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