Original ArticlesEpidemiologic Characteristics and Risk Factors for Congenital Hypothyroidism from 2009 to 2018 in Xiamen, China
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
REFERENCES (32)
Second International Conference on Neonatal Thyroid Screening: progress report
(1983)- et al.
Increase in congenital hypothyroidism in New York State and in the United States
(2007) - et al.
Definitive diagnosis in children with congenital hypothyroidism
(2004) - et al.
Congenital hypothyroidism in Western Australia 1981–1998
(2002) - et al.
Retrospective study on neonatal screening for congenital hypothyroidism and phenylketonuria in China in the past 22 years [in Chinese]
(2009) - et al.
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States
(2010) - et al.
Etiology of increasing incidence of congenital hypothyroidism in New Zealand from 1993–2010
(2012) - et al.
Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China [in Chinese]
(2004) - et al.
Evaluation of the congenital hypothyroidism screening programme in Iran: a 3-year retrospective cohort study
(2019) - et al.
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism
(2014)
Update of newborn screening and therapy for congenital hypothyroidism
Neonatal screening for congenital hypothyroidism and phenylketonuria in China
Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013–2015
Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas
Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening
Cited by (12)
Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan
2021, Clinica Chimica ActaCitation Excerpt :Defects in the biosynthesis of TH could result in congenital hypothyroidism (CH), the most common neonatal endocrine disorder worldwide with a global prevalence of 1:3000–4000 newborns [1], which is the preventable cause of intellectual disability and delayed physical development. However, the morbidity of CH has an significantly increasing trend in recent years due to a variety of factors including pre-term birth, post-term birth, low birth weight (LBW) and lower thyroid-stimulating hormone (TSH) cutoffs [2,3]. Newborns with CH initially present with no symptoms or have very mild symptoms such as prolonged jaundice, feeding difficulty, hoarse cry, constipation, umbilical hernia and macroglossia [4].
Etiological Investigation of Permanent Congenital Hypothyroidism in Neonates
2023, Iranian Journal of Diabetes and MetabolismCongenital hypothyroidism and thyroid function in a Japanese birth cohort: data from The Japan Environment and Children’s Study
2023, Clinical Pediatric EndocrinologyPredictive factors for the diagnosis of permanent congenital hypothyroidism and its temporal changes in Sergipe, Brazil – A real-life retrospective study
2023, Archives of Endocrinology and MetabolismRisk Factors of Congenital Hypothyroidism in Israel
2022, Israel Medical Association Journal
DISCLOSURE The authors have no multiplicity of interest to disclose.