Screening for congenital hypothyroidism: A worldwide view of strategies

Ford, George; LaFranchi, Stephen

doi:10.1016/j.beem.2013.05.008

Cited by 224 publications

(214 citation statements)

References 49 publications

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“…The majority of cases detected using a lower TSH cutoff tend to have milder hypothyroidism, with imaging often demonstrating an eutopic, "gland in situ". However, some cases turn out to have transient CH [5,7,[9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

Anastasovska

Kočova²

2017

IJNS

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Lower cutoff levels in screening programs have led to an increase in the proportion of detected cases of transient hypothyroidism, leading to an increase in the overall prevalence of primary congenital hypothyroidism (CH) in several countries. We have performed a retrospective evaluation on the data from 251,008 (96.72%) neonates screened for thyroid-stimulating hormone (TSH) level in dried blood spot specimens taken 48 h after birth, between 2002 and 2015, using the DELFIA method. A TSH value of 15 mIU/L whole blood was used as the cutoff point until 2010 and 10 mIU/L thereafter. Primary CH was detected in 127 newborns (1/1976) of which 81.1% had permanent and 18.9% had transient CH. The prevalence of primary CH increased from 1/2489 before 2010 to 1/1585 thereafter (p = 0.131). However, the prevalence of permanent CH increased only slightly (p = 0.922), while the transient CH prevalence showed an 8-fold increase after lowering the TSH cutoff level (p < 0.001). In cases of permanent CH, we observed a lower prevalence of thyroid dysgenesis (82.7% vs. 66.7%) and a higher prevalence of a normal in situ thyroid gland (17.3% vs. 33.3%), for the period with a lower TSH cutoff value. Our findings support the impact of a lower TSH cutoff on the increasing prevalence of congenital hypothyroidism.

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Section: Introductionmentioning

confidence: 99%

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

Anastasovska

Kočova²

2017

IJNS

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“…Changes in the ethnic composition of the population by the increasing migration of some ethnic groups with a high risk for CH and high fertility rate may have contributed to the rise of CH incidence [4]. The differences in CH incidence have mostly been attributed to the change of screening procedures, and the reduction of cutoff levels [5,6]. The incidence is higher in preterm infants (1:1396) than in full-term infants (1:1843), and infants from older mothers had a higher incidence (1:1328) than those from younger mothers (1:1703) [7].…”

Section: Introductionmentioning

confidence: 99%

Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia

Anastasovska

Sukarova-Angelovska²,

Pesevska

et al. 2017

IJNS

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Abstract:The incidence of congenital hypothyroidism (CH) is increasing in different areas around the world. Potential causes include changes in population ethnic composition, environmental factors, changing screening program methodology and lowering of TSH cutoff levels. The incidence of CH in different regions of Macedonia has not been evaluated before. A total of 251,008 newborns from all eight regions in the country have been screened between 2002 and 2015, by measurement of the thyroid-stimulating hormone (TSH) from blood spots, sampled 48-72 h after birth, using the DELFIA assay. Overall CH incidence confirmed at birth was 1/1976. The highest CH incidence was observed in the Vardar region (1/970), while the Eastern region had the lowest incidence (1/4202; p = 0.021). In the other regions, the following CH incidence was detected: Northeastern 1

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“…1 Since the introduction of newborn screening (NBS) programs in 1972, most infants with CH born in countries that have implemented these programs are identified through this type of procedure. 3 Unfortunately, there remain countries without adequate NBS programs, including the majority of countries in Africa. 3 It is estimated that 71% of newborns worldwide are not included in an NBS program.…”

mentioning

confidence: 99%

“…3 Unfortunately, there remain countries without adequate NBS programs, including the majority of countries in Africa. 3 It is estimated that 71% of newborns worldwide are not included in an NBS program. 3 Given the increase in displacement and migration of individuals from Africa, the diagnosis of previously unrecognized CH is likely to rise.…”

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confidence: 99%

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Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families

et al. 2016

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Newborn screening has dramatically reduced rates of untreated congenital hypothyroidism (CH). However, in low-income nations where newborn screening programs do not exist, untreated CH remains a significant health and societal challenge. The goal of this report is to alert health care providers about the potential of undiagnosed CH in unscreened immigrant children. We report 3 siblings of Somali descent with CH who started treatment with levothyroxine at age 0.5 years, 7.7 years, and 14.8 years and were followed for 8 years. This case series demonstrates a spectrum of severity, response to treatment, and neurocognitive and growth outcomes depending on the age at treatment initiation. Patient 1, now 22 years old, went undiagnosed for 14.8 years. On diagnosis, his height was –7.5 SDs with a very delayed bone age of –13.5 SDs. His longstanding CH was associated with empty sella syndrome, static encephalopathy, and severe musculoskeletal deformities. Even after treatment, his height (–5.2 SDs) and cognitive deficits remained the most severe of the 3 siblings. Patient 2, diagnosed at 7.7 years, had moderate CH manifestations and thus a relatively intermediate outcome after treatment. Patient 3, who had the earliest diagnosis at 0.5 years, displayed the best response, but continues to have residual global developmental delay. In conclusion, untreated CH remains an important diagnostic consideration among immigrant children.

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Screening for congenital hypothyroidism: A worldwide view of strategies

Cited by 224 publications

References 49 publications

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism

Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia

Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families

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