Permanent Decompensated Congenital Hypothyroidism in Newborns with Whole-Blood Thyroid-Stimulating Hormone Concentrations between 8 and 10 mU/L: The Case for Lowering the Threshold

2018 ◽  
Vol 89 (4) ◽  
pp. 265-270 ◽  
Author(s):  
Niamh McGrath ◽  
Colin P. Hawkes ◽  
Philip Mayne ◽  
Nuala P. Murphy

Background: Congenital hypothyroidism (CHT) has a reported incidence of approximately 1 in 2,000–4,000 births. There is no consensus on the optimal cut-off whole-blood thyroid-stimulating hormone (TSH) concentration that should be used for newborn screening (NBS). The NBS programme in the Republic of Ireland has used a cut-off of 8 mU/L since 1979. The aim of this study was to determine if raising the cut-off to 10 mU/L would have resulted in undetected cases of permanent or decompensated CHT. Methods: All cases of CHT with a screening whole-blood TSH concentration between 8.0 and 9.9 mU/L were identified from the Republic of Ireland’s NBS programme. Baseline demographics and imaging results were recorded. All cases over 3 years of age were evaluated to determine if CHT was permanent or transient. Results: Of 2,361,174 infants screened in the Republic of Ireland between July 1979 and December 2016, a total of 1,063 babies were diagnosed with CHT and treated with levothyroxine. This included 33 (3.5%) infants with a whole-blood TSH concentration between 8 and 9.9 mU/L. Thirteen of these 33 infants had decompensated hypothyroidism with low plasma free thyroxine level at diagnosis and 9 (41%) of the 21 evaluable cases have confirmed permanent CHT. Conclusion: Although lowering screening TSH cut-offs can increase the cost of NBS, as well as anxiety for families, many infants with borderline increases in whole-blood TSH concentrations on NBS have persistent CHT and low thyroxine concentrations in infancy. We recommend that this is considered when developing and reviewing NBS protocols for identifying infants with CHT.

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.


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.


2018 ◽  
Vol 5 (4) ◽  
pp. 1537 ◽  
Author(s):  
Manasi D. Garg ◽  
Poornima Kumar ◽  
Sakthi Abirami ◽  
Manikandan M. ◽  
Lalitha Krishnan

Background: Newborn screening using cord blood Thyroid Stimulating Hormone (TSH) is an effective and an easy way to screen babies for congenital hypothyroidism. Congenital hypothyroidism is a common preventable and treatable cause of mental retardation. Early diagnosis with the help of newborn screening aids in timely management and decreased morbidity. Various maternal and neonatal variables can affect cord blood TSH level thereby affecting the accurate diagnosis of congenital hypothyroidism. This study aims at studying the perinatal variables affecting cord blood TSH.Methods: In a retrospective cross-sectional study conducted in a tertiary care hospital, the hospital case records of 1465 newborn and their mother were studied for variables including cord blood TSH, maternal age, mode of delivery, parity, gender of baby, gestational age and growth of baby. The effect of these perinatal variables on cord blood TSH was analysed statistically. P value below 0.05 was considered as statistically significant. The statistical analysis was done used the SPSS software version 18.0.Results: The median cord blood TSH was 8 microIU/ml (IQR= 6-12) with 8.1% newborns having values more than 20 microIU/ml. Cord blood TSH was significantly raised in male babies (p <0.01) and in neonates born by assisted vaginal delivery (p <0.01).  Significant increase in cord blood TSH (p <0.02) was observed in neonates born to primiparous mothers. Maternal age, gestational age of the newborn and growth of the newborn did not have significant effect on cord blood TSH values.Conclusions: The mode of delivery, parity and gender of the baby were found to be significant variables affecting cord blood TSH values. Hence, cord blood TSH values should be interpreted in the light of these perinatal variables.


2016 ◽  
Vol 35 (4) ◽  
pp. 385-389 ◽  
Author(s):  
Violeta Anastasovska ◽  
Mirjana Kocova

SummaryBackground:Iodine deficiency is associated with goiter and impaired brain function leading to cretinism. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L on newborn screening points toward an impaired iodine status of the population.Methods:A 13-year retrospective analysis was performed in 228,266 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, 48 hours after birth, using fluoroimmunometric DELFIA method.Results:Out of 236,378 live-born infants, 228,266 (96.6%) have been screened for TSH, of which 198,213 (86.8%) were retrospectively evaluated for TSH levels above 5 mIU/L. Neonates with congenital hypothyroidism, prematurity, and low birth weight were excluded from the evaluation, as well as the inadequately sampled neonates (13.2%). A national prevalence of 3.08% newborns (n=6,105) with TSH > 5 mIU/L was found. Higher percentages were noted in two regions of the country, indicating possible mild iodine deficiency in these regions and shifting the overall average to above 3%.Conclusions:Our results indicate overall iodine sufficiency in the Macedonian population. Additional assessment of the iodine intake in the regions with suspected mild iodine deficiency is needed to prevent suboptimal cognitive and psychomotor outcomes.


2020 ◽  
Vol 26 (6) ◽  
pp. 585-594 ◽  
Author(s):  
Jing Chen ◽  
Shaowu Lin ◽  
Guozhang Zeng ◽  
Weixing Wang ◽  
Zhenqiu Lin ◽  
...  

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


2019 ◽  
Vol 40 (4) ◽  
pp. 350-366
Author(s):  
Iria García de la Rosa ◽  
Sadys Feal Carballo ◽  
Pedro R. Almenares Guasch ◽  
Mary T. Segura González ◽  
Maylín Pupo Infante ◽  
...  

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