Epidemiology and Clinical Characteristics of Congenital Hypothyroidism in an Asian Population: A Nationwide Population-Based Study

Lee, Kun Tai; Lee, Charles Tzu Chi; Lai, Wen Ter; Huang, Yaw‐Bin

doi:10.2188/jea.je20120113

Cited by 33 publications

(27 citation statements)

References 36 publications

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“…The prevalence of congenital hypothyroidism in Taiwan ranges from 1 in 1992 live births to 1 in 5788 live births, 1,2 which is similar to the 1 in 4000 live births reported in European and North American populations. 3,4 Thyroid dysgenesis, such as agenesis, hypoplasia, ectopy, and hemiagenesis, accounts for 80e85% of congenital hypothyroidism; thyroid dyshormonogenesis contributes to the remaining 15e20% of cases.…”

Section: Genetic Basis Of Congenital Hypothyroidismsupporting

confidence: 58%

A systematic review of genetic studies of thyroid disorders in Taiwan

Huang

Jap

2015

Journal of the Chinese Medical Association

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A systematic review of genetic studies of thyroid disorders in Taiwan identified studies of gene mutations involved in the synthesis and binding of thyroid hormone, as well as mutations of proto-oncogenes and tumor suppressor genes in thyroid cancer. Studies related to gene polymorphisms in patients with autoimmune thyroid disease (AITD) and thyroid cancer were also reviewed. The most prevalent mutations in the Han-Chinese population were c.2268insT in the thyroid peroxidase (TPO) gene and c.919-2A>G in the Pendred syndrome (PDS) gene. Additional mutations have also been revealed in the genes encoding TPO (n = 5), thyroglobulin (TG; n = 6), pendrin (n = 2), and thyroxine-binding globulin (TBG; n = 2), which were novel at the time they were reported. The prevalence of various somatic mutations in differentiated thyroid cancer was similar in Taiwan and Western countries, with the RAS kinase mutation and tyrosine receptor kinase (TRK) and rearranged during transfection (RET) proto-oncogenes being detected in lower frequencies and the B-type RAF kinase (BRAF) mutation accounting for the majority of cases. Recent microRNA analysis revealed an association between miR146b and the BRAF mutation, which was associated with poor prognosis of papillary thyroid carcinoma (PTC). Susceptibility to Graves' disease (GD) was linked to the human leukocyte antigen (HLA) region. The associated alleles were different in Han-Chinese and Caucasians; HLA-DPB1*0501, the major allele in Taiwan, has a low frequency in the West. By contrast, a high frequency of HLA-DRB1*0301 was detected in Caucasians but not Han-Chinese. In addition to the HLA region, cytotoxic T lymphocyte-associated molecule-4 (CTLA4) gene polymorphisms +49G>A and +6230G>A (CT60) were positively associated with GD. The GG genotype and G allele of single nucleotide polymorphism (SNP) +49G>A were also related to relapse of Graves' hyperthyroidism after antithyroid drug withdrawal. Differences in the genetic patterns between Han-Chinese and Caucasians for some thyroid disorders suggest the importance of variable genetic influences in different populations.

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Section: Genetic Basis Of Congenital Hypothyroidismsupporting

confidence: 58%

A systematic review of genetic studies of thyroid disorders in Taiwan

Huang

Jap

2015

Journal of the Chinese Medical Association

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“…The overall incidence of CH in our study was found to be 1:2,000, which is consistent with earlier studies that reported incidences ranging from 1:500 to 1:5,263 from India and other Asian countries. 18,19 The incidence of CH appears to be higher in the Asian population when compared with the United States as reported by Harris and Pass. 20 Another report by Padilla and Therrell analyzed NBS data from the Asia Pacific region and concluded that certain countries in the region do not screen all neonates for CH thus increasing the burden of this disorder.…”

Section: Discussionmentioning

confidence: 77%

Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India

Verma

Roy

Thomas

et al. 2019

J Pediatr Intensive Care

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Newborn screening (NBS) aims toward early detection of treatable congenital disorders. From January 2008 through December 2017, 13,376 newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency at Sir Ganga Ram Hospital, India, by measuring G6PD activity, thyroid-stimulating hormone, and 17-hydroxyprogesterone on dried blood specimens. The birth prevalence of 1:2,000 for CH, 1:2,500 for CAH, and 1:125 for G6PD deficiency indicates the latter as the most prevalent. Performance evaluation of testing reveals a robust screening program with 100% sensitivity and >99% specificity. Hence, we recommend NBS for early diagnosis and treatment to prevent adverse outcomes.

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“…Congenital hypothyroidism (CH) is one of the most common endocrine diseases and affects 1 in 1000 to 1 in 4000 newborns worldwide (1,2). The incidence of CH in Iran is high; 2/1000 newborns (3), and by performing a screening program for congenital hypothyroidism, a total of $13,078 was saved per child with CH (4).…”

Section: Dear Editormentioning

confidence: 99%