Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey

Kör, Yılmaz; Kör, Deniz

doi:10.1515/jpem-2017-0433

Cited by 10 publications

(19 citation statements)

References 17 publications

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“…The frequency of CH depends on the studied population; however, in the last 20-30 years an increase in frequency up to 1 : 2000 newborns has been observed. The increase is caused, to a great extent, by the lowering of the thyroid-stimulating hormone (TSH) threshold value for the diagnosis CH in screening tests [1][2][3][4]. In Poland the frequency of CH is approximately 1 : 3500 newborns.…”

Section: Introductionmentioning

confidence: 99%

“…In Poland the frequency of CH is approximately 1 : 3500 newborns. This value is largely due to the implementation of measuring FT4 levels in addition to measuring TSH levels in the 3 rd -5 th day of life in small for gestational age newborns (lowered FT4 with lowered TSH, which is a result of an immature hypothalamo-pituitary axis) [1][2][3]. This is performed independently of the screening results.…”

Section: Introductionmentioning

confidence: 99%

“…Congenital hypothyroidism may be a result of improper organogenesis (morphogenesis) of the thyroid gland and occur in the form of agenesis, hemiagenesis, hypoplasia, or ectopic thyroid gland, or it can be related to improper synthesis of thyroid hormones [1]. Traditionally, it is thought that CH is due to improper organogenesis in 80-85% of cases, abnormalities of thyroid hormone synthesis constitute 15-20% of causes, and 5% are caused by impaired function of the pituitary gland or hypothalamus [1,2,4]. In accordance with data from current literature, neonates with congenital hypothyroidism have an increased rate of associated congenital defects compared to the general population (from 14.6% to 59%) [6][7][8].…”

Section: Introductionmentioning

confidence: 99%

“…The most recent observations suggest that genetic risk factors play the most important role. According to this data, genes that are critical in the proper functioning and structure of the thyroid gland are also important in the normal functioning and structure of extrathyroidal structures [1,2,[4][5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

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Extrathyroidal congenital defects in children with congenital hypothyroidism – observations from a single paediatric centre in Central Europe with a review of literature

Wędrychowicz

Furtak

Prośniak

et al. 2019

pedm

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Introduction: Patients with congenital hypothyroidism (CH) can have an increased risk of occurrence of extrathyroidal defects compared to the general population, which could influence their development. The abnormalities occur mainly in organ systems whose development and function is dependent on genes that are also responsible for proper organogenesis of the thyroid gland and thyroid hormone synthesis. Aim of the study: The aim of the study was to evaluate the frequency of extrathyroidal defects in CH patients, taking into consideration the cause of this co-occurrence and the role of genetic tests. Material and methods: The study included 54 newborns with positive screening test for CH based on elevated TSH level, in the years 2010-2017, from SouthEastern Poland. The data was retrieved retrospectively from patients' medical records. Results: Twenty of 54 newborns with CH (37%) had congenital defects of other organs. In 10 (18.5%) cardiac defects were found, in 5 (9.25%) abnormal symptoms of the respiratory system, 7 (12.96%) had abnormalities of the gastrointestinal system, five (9.25%) had genitourinary abnormalities, 3 (5.55%) had abnormalities of the nervous system, and 6 (11.1%) had musculoskeletal abnormalities. Conclusions: The analysis of our data and current literature suggests that genetic factors play the most important role in the development of extrathyroidal abnormalities in newborns with CH. Identifying the mutation causing CH, the potential defects that can accompany newborns with CH, screening could be offered for these patients in order to obtain an earlier diagnosis and implement early and appropriate treatment.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Extrathyroidal congenital defects in children with congenital hypothyroidism – observations from a single paediatric centre in Central Europe with a review of literature

Wędrychowicz

Furtak

Prośniak

et al. 2019

pedm

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“…Nos estudos de Sergipe e Tocantins esse indicador não foi abordado (15)(34), assim como no recente estudo sobre o programa de triagem neonatal em Carazinho-RS(14). Na Turquia, em 2017, foi observado na província de Adana uma mediana de idade para primeira consulta de pacientes com HCde 19,8 dias de vida(36). Em nosso estudo, a mediana em dias para primeira consulta de pacientes com HC foi de 50 a 60 dias de vida entre 2013 a 2015.…”

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Avaliação de indicadores de qualidade do programa de triagem neonatal do Amazonas entre 2013 e 2016

Prazeres¹

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High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

Özer,

Anık,

Sayılı

et al. 2024

J Endocrinol Invest

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Purpose We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH. Methods This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by “National Newborn Screening Program” (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET). Results Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34–38) months. Among the patients with PCH (n = 111), thyroid dysgenesis was diagnosed in 39.6% (n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 µg/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 µIU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 µg/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750. Conclusion According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 µg/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 µIU/mL as the best cut-off limits to predict TCH.

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Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey

Abstract: Although the duration for the diagnosis and initiation of CH treatment were markedly reduced with the implementation of the screening program in Turkey compared to those before the implementation of the screening program, we have not yet achieved the ideal time (≤14 days).

Cited by 10 publications

References 17 publications

Extrathyroidal congenital defects in children with congenital hypothyroidism – observations from a single paediatric centre in Central Europe with a review of literature

Extrathyroidal congenital defects in children with congenital hypothyroidism – observations from a single paediatric centre in Central Europe with a review of literature

Avaliação de indicadores de qualidade do programa de triagem neonatal do Amazonas entre 2013 e 2016

High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

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