Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

Kempers, Marlies; Lanting, C.I.; Heijst, Arno van; Trotsenburg, A S Paul van; Wiedijk, Brenda M.; Vijlder, J. J. M. De; Vulsma, Thomas

doi:10.1210/jc.2006-0058

Cited by 92 publications

(63 citation statements)

References 23 publications

(25 reference statements)

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“…The median TT 4 and fT 4 levels before starting treatment were not significantly different among patients with permanent and transient CH. This was reported also by Hashemipour et al, while the initial T 4 levels correlated with the etiology of CH in other reports (23). These findings indicate that the first TSH and T 4 levels may have a predictive role for differentiating the permanent forms of CH from the transient forms.…”

Section: Discussionsupporting

confidence: 81%

The evaluation of transient hypothyroidism in patients diagnosedwith congenital hypothyroidism

Kendırcı¹,

Aycan²,

Sağsak³

et al. 2015

Turk J Med Sci

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Children diagnosed with congenital hypothyroidism who started treatment among the newborn babies who were referred to the Dr. Sami Ulus Women and Children's Health Training and Research Hospital Pediatric Endocrinology Background/aim: Congenital hypothyroidism (CH) is divided into two groups as 'permanent' and 'transient' . We aimed to determine the rate of transient and permanent congenital hypothyroidism of the newborns referred to our clinic. Materials and methods:Of the newborns who were referred to our clinic from the neonatal screening program, those who were diagnosed with CH and started treatment were included in the study. The treatments of the patients whose required daily treatment dose was reduced to under 1 µg/kg were terminated and those who were followed monthly and whose fT 4 and thyroid-stimulating hormone (TSH) levels were normal at least 3 times without treatment were considered to have transient hypothyroidism.Results: Of the 256 newborns referred to our clinic from the neonatal screening program, 114 (44.5%) were diagnosed with CH. Of the CH patients, 70% (n = 58) were evaluated to have permanent and 30% (n = 25) transient hypothyroidism. Neonatal and serum TSH levels and treatment doses were found to be significantly lower in the transient hypothyroidism patients. Conclusion:Initial measurements of the serum TSH level and the required doses of L-thyroxine therapy for maintaining normal thyroid hormone levels, growth, and development may have a predictive role for differentiating permanent forms of CH from transient forms.

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Section: Discussionsupporting

confidence: 81%

The evaluation of transient hypothyroidism in patients diagnosedwith congenital hypothyroidism

Kendırcı¹,

Aycan²,

Sağsak³

et al. 2015

Turk J Med Sci

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“…Moreover, the CH-C cases constituted 13.5% of all cases of permanent congenital primary and secondary hypothyroidism [9]. Analogous were the results of a study by Kempers et al [10] in which a prevalence of CH-C of 1:21.000 was estimated. In another study by Lanting et al [11] the prevalence of CH-C, based on T4, TSH and T4/ TBG ratio determination was 1:16404.…”

Section: Prevalence Of Ch-csupporting

confidence: 64%

Genetically Determined Central Hypothyroidism

Voutetakis¹,

Settas²,

Dacou-Voutetakis³

2013

J Genet Syndr Gene Ther

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“…Devemos considerar em relação à concentração do TSHneo e TSH, T4, T4 livre séricos em lactentes a influência da prematuridade, gemelaridade, síndrome de Down, baixo peso e muito baixo peso ao nascer, tipos de parto, patologias neonatais, auto-imunidade, mutações do receptor do TSH, baixas concen-Hipotireoidismo Congênito no Nordeste Ramalho et al copyright © ABE&M todos os direitos reservados trações de TBG, uso de drogas e proporção de HC transitório. O conjunto destes fatores condiciona peculiaridades específicas a cada região, que podem refletir em diferentes níveis de corte (19,60,66,(77)(78)(79)(80).…”

Programa de triagem neonatal para hipotireoidismo congênito no nordeste do Brasil: critérios diagnósticos e resultados

Ramalho

Oliveira

et al. 2008

Arq Bras Endocrinol Metab

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RESUMOAvaliamos as concentrações do TSH em papel-filtro colhido no calcanhar (TSHneo) de 48.039 crianças triadas do programa de triagem neonatal (PTN) para o hipotireoidismo congênito (HC) de Sergipe, as concentrações de TSH, T4 total e T4 livre colhidas em sangue periférico nas crianças convocadas suspeitas de HC, a idade nas diversas fases do programa, a cobertura e a freqüência do PTN de janeiro de 2005 a agosto de 2006, comparando-as com dados da literatura. Utilizamos para análise os seguintes parâmetros: média, mediana, coeficiente de variação e distribuição de freqüência. A idade da criança por ocasião da coleta em papel filtro no calcanhar foi 10 ± 9 dias (média ± desvio-padrão) e a idade na realização do ensaio do TSHneo foi de 31 ± 13 dias. Em 2005, a cobertura do PTN, para o interior e para a capital de Sergipe, foi de 77% e 73%, respectivamente. Verificamos que em 99,484% das crianças triadas as concentrações do TSH coletado em papel-filtro encontravam-se entre 0,01 e 5,20 µU/mL. As concentrações do TSH decrescem com o aumento da idade até estabilizar entre 11 e 15 dias de vida. ABSTRACT Neonatal Screening Program for Congenital Hypothyroidism in Northeast of Brazil: Criteria, Diagnosis and Results.It was evaluated the concentration of TSH in blood spot (TSHneo) of 48.039 children included in the Neonatal Screening Program (NSP) for Congenital Hypothyroidism (CH) of Sergipe (SE), a state in the northeast of Brazil. It was also evaluated the concentration of serum TSH, total T4 and free T4 in the recalled children suspicious of having CH, their age in several phases of the program, the covering and frequency of the NSP in the cases from January 2005 to August 2006, comparing them with literature data. The following parameters were used or the analysis: mean, standard deviation, median, coefficient of variation and frequency distribution. The children´s age at the collection in filter-paper specimen was 10 ± 9 days (Mean±SD) and the TSHneo execution assay was done in the period of 31 ± 13 days. In 2005 the covering by the NSP was about 77% in the countryside and 73% in Aracaju, the capital of Sergipe. It was verified that in 99,484% of the children included in the screening, the TSHneo varied from 0,01 to 5,20µU/ml, decreasing according to the age and stabilizing when they were between 11 and 15 days. 248 children were recalled from the TSHneo (1/194).The concentrations of TSH, T4 and free T4 collected by venous puncture were normal in 119 children (1/404). The frequency of suspected CH was 1/485 (99 cases), of CH was 1/6005 (8 cases) and of hypothyroxinemia was 1/16013 (3 cases). Therapy for CH began within 51 ± 12 days.

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Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

Cited by 92 publications

References 23 publications

The evaluation of transient hypothyroidism in patients diagnosedwith congenital hypothyroidism

The evaluation of transient hypothyroidism in patients diagnosedwith congenital hypothyroidism

Genetically Determined Central Hypothyroidism

Programa de triagem neonatal para hipotireoidismo congênito no nordeste do Brasil: critérios diagnósticos e resultados

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