Elsevier

Endocrine Practice

Volume 26, Issue 6, June 2020, Pages 585-594
Endocrine Practice

Original Articles
Epidemiologic Characteristics and Risk Factors for Congenital Hypothyroidism from 2009 to 2018 in Xiamen, China

https://doi.org/10.4158/EP-2019-0491Get rights and content

ABSTRACT

Objective: Early diagnosis and treatment of children with congenital hypothyroidism (CH) through newborn screening can effectively prevent delayed development. This study was designed to investigate the pathogenesis and factors that influence CH in urban areas of China between 2009 and 2018.

Methods: A retrospective analysis of newborn screening data and diagnosis and treatment information for CH diagnosed in the information database of the neonatal disease screening center in one of China's five special economic zones from 2009 to 2018.

Results: Of the 947,258 newborns screened between 2009 and 2018, 829 (406 girls) were diagnosed with CH at birth (1 diagnosis/1,136 births). Among the 608 cases of CH diagnosed at birth and re-evaluated at the age of 3 years, 487 were permanent congenital hypothyroidism (PCH, 1/1,429), and 121 were transient congenital hypothyroidism (TCH, 1/5,882). A total of 83.2% of infants with PCH (405/487) underwent thyroid imaging in the neonatal period, of which thyroid dysgenesis accounted for 28.64% (116/405) and functional defects accounted for 71.36% (289/405). The incidence of CH changed significantly in infants with initial serum thyroid-stimulating hormone concentrations of 41 to 100 mIU/L and ≥100 mIU/L, whereas the incidence of mild CH showed a slight increase. The incidence of CH was significantly higher in postterm infants (1/63) and low-birth-weight infants (1/370).

Conclusion: In the past decade, the incidence of CH has increased, mainly due to the increase in the incidence of PCH and TCH. The incidence of mild CH has increased slightly. Postterm birth and low birth weight are important factors affecting the incidence of CH.

Abbreviations: CH = congenital hypothyroidism; FT4 = free thyroxine; L-T4 = levothyroxine sodium; PCH = permanent congenital hypothyroidism; TCH = transient congenital hypothyroidism; TSH = thyroid-stimulating hormone; TT4 = total thyroxine

Section snippets

INTRODUCTION

Congenital hypothyroidism (CH) is a common congenital endocrine disease and includes congenital development and ectopy or functional defects of thyroid tissue. If not treated in a timely fashion, it can lead to delayed growth and intellectual disability. Clinically, CH is divided into two types according to the duration of hypothyroidism: permanent congenital hypothyroidism (PCH) and transient congenital hypothyroidism (TCH). The etiology of CH includes genetic and various environmental

Source of Data

This study reviewed information on newborn screening (screening number and screening rate) and CH diagnosis (number of confirmed cases and clinical classification) in the information database of the Newborn Disease Screening Center in Xiamen from 2009 to 2018. The obstetrics quality report from Xiamen City was provided by the Population Information Division of Xiamen Maternal and Child Health Hospital. The study was approved by the Human Research Ethics Committee of Xiamen Maternal and Child

CH Screening and Overall Incidence

From January 2009 to December 2018, the total number of live births in Xiamen was 998,198, and the number of newborns screened was 947,258 (94.9%). The screening rate of newborns increased year on year, from 90.64% in 2009 to 99.1% in 2018 (Fig. 2 A). Of these, 829 (406 girls) were diagnosed with CH at birth (incidence: 1/1,136), and 48 infants (5.79%) were preterm. The number of confirmed cases of CH at birth increased from 66 in 2009 (1/1,176) to 101 in 2011 (1/909) and then gradually

DISCUSSION

Studies have shown that the incidence of CH diagnosed at birth in Xiamen between 2009 and 2018 fluctuated over time, with an average incidence rate of 1/1,136. Upon re-evaluation at 3 years of age, the PCH incidence was 1/1,429, significantly higher than the worldwide incidence of CH (1/3,000 to 1/4,000) (11). In the past 2 decades, Western countries have conducted extensive research on CH, but few studies have focused on the incidence of CH in China. Data collected from the National Newborn

CONCLUSION

Our study demonstrates that in the past decade, the incidence of CH in Xiamen has increased, mainly due to an increase in the incidence of PCH and TCH, and the incidence of mild CH has risen slightly, mainly in those with a normal thyroid or goiter. Postterm birth and low birth weight are important factors influencing the change in CH incidence in neonates. In future epidemiologic investigations, we will continue to study other potential causes of CH, such as iodine deficiency or excess,

ACKNOWLEDGMENT

We thank all of the participants of this study. We also thank all of the investigators for their relentless effort in collecting clinical and imaging data. This study was supported by grants from the National Natural Science Foundation of China (81370891, 81670720), the Guiding Project of the Natural Science Foundation of Fujian (2019D010), the Fujian Young/Middle-aged Talent Cultivation Project (2019-ZQNB-31), the Xiamen Science and Technology Commission (3502Z20164029), and special funds from

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    DISCLOSURE The authors have no multiplicity of interest to disclose.

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