scholarly journals Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

Background: Iodine deficiency is associated with goiter and impaired brain function. Neonatal thyroid-stimulating hormone (TSH) screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency and of its control. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L in newborn screening corresponds to the impaired iodine status of the population. The aim: to estimate the iodine deficiency and the effectiveness of iodine prophylaxis in Krasnoyarsk territory, Republics of Tuva and Khakassia according the results of neonatal TSH_screening. Methods: An 18-year analysis was performed in 34,980 newborns participating in the national thyroid newborn screening program. The TSH concentration was measured in dry blood spots collected by heel stick on filter paper, 96 hours after birth, using DELFIA method. Results: According to the data of the congenital hypothyroidism screening the rate of TSH < 5 mU/1 was 11.8% in Krasnoyarsk territory (23.9% in 2000) and corresponded to mild iodine deficiency. In different regions of Krasnoyarsk territory the rate of TSH < 5 mU/1 in the newborn varied from 3.5% to 23.7%. The highest values were marked in the Arctic peninsula Taimyr, in cities Zheleznogorsk (nuclear facility) and Sosnovoborsk, in Irbeysky, Suchobuzimsky, Eniseysky, Tuchtetsky, Novoselovsky regions (20.9–23.7%). In the Republic of Khakasia the rate of TSH < 5 mU/1 was 12.5%. In the Republic of Tyva the rate of TSH < 5 mU/1 was – 6.6% (38.6% in 1997; 11.5% in 2000). These results indicate mild iodine deficiency. Conclusion: Our investigations show mild iodine deficiency in Central Siberia demanding continuous adequate iodine prevention. Additional assessment of the iodine intake in the regions with mild iodine deficiency is needed to prevent suboptimal cognitive and psychomotor outcomes.


PEDIATRICS ◽  
1977 ◽  
Vol 60 (4) ◽  
pp. 538-541
Author(s):  
STEPHEN H. LAFRANCHI ◽  
NEIL R. M. BUIST ◽  
WILLIAM H. MURPHEY ◽  
P. REED LARSEN ◽  
THOMAS P. FOLEY

A screening program for the detection of neonatal hypothyroidism has been in effect in Oregon since May 1975. Blood samples are obtained from all newborn infants to test for phenylketonuria and other metabolic diseases. A second specimen is obtained from more than 90% of these infants who are retested at 4 to 6 weeks of age. These Guthrie filter paper blood samples are analyzed for thyroxine (T4), and all samples with a low T4 value are analyzed for thyroid stimulating hormone (TSH). At the outset of the program, it was speculated that the screening might detect infants who had reduced


PEDIATRICS ◽  
1992 ◽  
Vol 90 (6) ◽  
pp. 1008-1009
Author(s):  
G. J. MIZEJEWSKI ◽  
K. A. PASS

To the Editor.— We recently have documented a relationship between serum α-fetoprotein (AFP) and congenital hypothyroidism (CH) in the newborn period. Previous studies in our laboratory and others had reported a relationship between elevated serum AFP and elevated thyroid-stimulating hormone (TSH)/low thyroxine T4 in newborns and infants in the first few months of life.1-4 The New York State Newborn Screening Program for CH routinely screens more than 300 000 specimens per year diagnosing 120 to 140 confirmed cases of CH annually.


2018 ◽  
Vol 31 (6) ◽  
pp. 601-608 ◽  
Author(s):  
Kui Deng ◽  
Chunhua He ◽  
Jun Zhu ◽  
Juan Liang ◽  
Xiaohong Li ◽  
...  

Abstract Background: Congenital hypothyroidism (CH) is one of the most frequent, preventable causes of mental retardation. Little has been reported on the epidemiological characteristics of CH in China. We aimed to estimate the incidence of CH in China and investigate its geographical variation. Methods: We analyzed data from the nationwide newborn screening program for CH between 2013 and 2015. Poisson regression was used to generate the odds ratios (ORs) and 95% confidence intervals (CIs) between the rates of CH and selected demographic characteristics and assess the potential association between CH incidence and geographical locations. Results: A total of 18,666 patients with CH were identified from 45.2 million newborns, yielding an overall incidence rate of 4.13 per 10,000 live births. Compared with those in the remote area, regardless of infant sex, a higher incidence risk for CH was present in newborns in coastal areas and inland areas (females: OR=2.00, 95% CI: 1.86–2.16 and OR=1.74, 95% CI: 1.61–1.87, respectively; males: OR=1.70, 95% CI: 1.59–1.83 and OR=1.52, 95% CI: 1.42–1.63, respectively). Additionally, the highest risk of CH for thyroid-stimulating hormone (TSH) screening values <40 mU/L was observed among neonates in the coastal areas, while TSH screening values of 70–100 mU/L were observed among those in the inland areas. Conclusions: The overall incidence of CH is high in China. The significant geographical variations of CH incidence are presented in this study.


PEDIATRICS ◽  
1983 ◽  
Vol 72 (2) ◽  
pp. 263-264
Author(s):  
Howard W. Kilbride ◽  
Robert J. Lull ◽  
Heinz G. Lehman

Although the New England Regional Screening Program report1 indicates that human error is the most likely cause of failure to detect congenital hypothyroidism in infants, our experience suggests that compensated hypothyroidism might be missed in some newborns unless screening includes a thyroid-stimulating hormone (TSH) assay and a thyroxine (T4) concentration. In the past 2 years, we have diagnosed congenital hypothyroidism in three infants. In at least one of these infants, the disease would not have been identified by T4 concentration screening alone.


2019 ◽  
Vol 09 (01) ◽  
pp. 040-044 ◽  
Author(s):  
Jyotsna Verma ◽  
Papai Roy ◽  
Divya C. Thomas ◽  
Geetu Jhingan ◽  
Azad Singh ◽  
...  

AbstractNewborn 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.


2012 ◽  
Vol 28 (9) ◽  
pp. 1623-1631 ◽  
Author(s):  
Judy Botler ◽  
Luiz Antonio Bastos Camacho ◽  
Marly Marques da Cruz

In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.


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