Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment

Huo, Kaiming; Zhang, Zhan; Zhao, Dingxin; Li, Hezhou; Wang, Jun; Wang, Xinxia; Feng, Hua; Wang, Xiaoyang; Zhu, Changlian

doi:10.1507/endocrj.k10e-384

Cited by 42 publications

(38 citation statements)

References 31 publications

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“…Disease severity, as judged by very low initial levels of thyroid hormones due to the absence or loss of function of the thyroid gland and by severely delayed bone age, has also been shown to be an important predictive factor for neurodevelopment [49,82,83,84,85,86,87]. Severely affected children may benefit from a higher initial dose of L-T 4 , leading to the more rapid normalization of thyroid hormone levels and potentially resulting in a better intellectual outcome [88,89,90,91].…”

Section: 1 Initial Treatment and Therapeutic Regimensmentioning

confidence: 99%

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

Léger¹,

et al. 2014

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Objective: The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). Evidence: A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Consensus Process: Thirty-two participants drawn from the European Society for Paediatric Endocrinology and five other major scientific societies in the field of pediatric endocrinology were allocated to working groups with assigned topics and specific questions. Each group searched the literature, evaluated the evidence, and developed a draft document. These papers were debated and finalized by each group before presentation to the full assembly for further discussion and agreement. Recommendations: The recommendations include: worldwide neonatal screening, approaches to assess the cause (including genotyping) and the severity of the disorder, the immediate initiation of appropriate L-T₄ supplementation and frequent monitoring to ensure dose adjustments to keep thyroid hormone levels in the target ranges, a trial of treatment in patients suspected of transient CH, regular assessments of developmental and neurosensory functions, consulting health professionals as appropriate, and education about CH. The harmonization of diagnosis, management, and routine health surveillance would not only optimize patient outcomes, but should also facilitate epidemiological studies of the disorder. Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy.

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Section: 1 Initial Treatment and Therapeutic Regimensmentioning

confidence: 99%

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

Léger¹,

et al. 2014

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“…There is an inverse relationship between the age of diagnosis/treatment and intelligence quotient (IQ). Children that are identified in NB screening programs and treated in the first weeks of life usually have a normal IQ, although some studies have shown that they also have cognitive deficits (48,49).…”

Section: When Should Treament Begin?mentioning

confidence: 99%

Hipotireoidismo congênito: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

Maciel

Kimura²,

Nogueira

et al. 2013

Arq Bras Endocrinol Metab

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Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with an incidence of 1:2,000 to 1:4,000 live births and it is a leading preventable mental retardation. Neonatal Screening Programs allow early identification of the disease and the adequate treatment of affected children can avoid the complications related to deprivation of the hormone. Most cases of primary congenital hypothyroidism (85%) are due to thyroid dysgenesis (ectopia, hypoplasia or agenesis) while the remaining result from defects in hormone synthesis. Affected children (> 95%) usually have no symptoms suggesting the disease at birth. The most frequent symptoms and signs are prolonged neonatal jaundice, hoarse cry, lethargy, slow movements, constipation, macroglossia, umbilical hernia, large fontanelle, hypotonia and dry skin. Around the world, various strategies are used for the screening of the CH. In Brazil, screening for CH is mandatory by law and usually done by serum TSH in dried blood collected from the heel. The recommended age for performing this test is after 48 hours of life until the 4 th day. Diagnostic confirmation is required dosing TSH and free T 4 or total T 4 in serum. Arq Bras Endocrinol Metab. 2013;57(3):184-92Keywords Congenital hypothyroidism; neonatal screening RESUMO O hipotireoidismo congênito (HC) é o distúrbio endócrino congênito mais frequente, com incidência variando de 1:2.000 a 1:4.000 crianças nascidas vivas e uma das principais causas de retardo mental que pode ser prevenida. Os Programas de Triagem Neonatal para a doença permitem a identificação precoce dos afetados e seu tratamento de modo a evitar as complicações da falta do hormônio. A maioria dos casos de hipotireoidismo congênito é decorrente de disgenesias tireoidianas (85%), entre elas a ectopia, hipoplasia ou agenesia tireoidianas, e os demais resultam de defeitos de síntese hormonal. As crianças afetadas (> 95%) geralmente não apresentam sintomas sugestivos da doença ao nascimento. Os sintomas e sinais mais comuns são: icterícia neonatal prolongada, choro rouco, letargia, movimentos lentos, constipação, macroglossia, hérnia umbilical, fontanelas amplas, hipotonia e pele seca. Várias estratégias são utilizadas para a triagem do HC. No Brasil, esta é obrigatória por lei e geralmente é feita com a dosagem de TSH em sangue seco coletado do calcanhar. A idade recomendada para sua realização é após as 48 horas de vida até o quarto dia. A confirmação diagnóstica é obrigatória com as dosagens de TSH e T 4 livre ou T 4 total. Arq Bras Endocrinol Metab. 2013;57(3):184-92 Descritores Hipotireoidismo congênito; triagem neonatal

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“…La mancata somministrazione di ormoni tiroidei, in caso di necessità, comporta dei rischi che determinano una diminuzione della produzione di surfactante da parte del neonato pretermine, un' alterata termogenesi ed un alterato metabolismo in senso lato, che possono determinare una diminuzione della sopravvivenza del neonato prematuro. Nelle epoche successive, in relazione all'importanza degli ormoni tiroidei sullo sviluppo cerebrale, la mancata somministrazione di questi in un soggetto carente, per un periodo di tempo prolungato, quasi certamente può indurre dei danni al SNC, che si esprimono con un deficit dei processi neurocognitivi del soggetto e con un ridotto QI [37][38][39][40].…”

Section: Discussioneunclassified

“…In the present study we examined a total population of 1,671 adapted for gestational age newborns (AGA) of which 1,159 resulted in full term and 512 resulted in preterm. The population was divided into eight groups of [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42] and for each age group the median values of TSH and tT4 was determined. The TSH and tT4 were obtained in the 2nd -3rd day of life at the screening for Congenital Hypothyroidism.…”

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confidence: 99%

Thyroid Stimulating Hormone and Thyroxine Screening in the Preterm Newborn: Reference Values

et al. 2013

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InTrODUZIOneLo Screening per l'Ipotiroidismo Congenito, introdotto negli anni '70, ha messo in evidenza livelli di tireotropina (TSH) e ormoni tiroidei (TH) differenti nei neonati prematuri rispetto ai nati a termine. Il neonato pretermine presenta una secrezione ormonale ridotta rispetto al neonato a termine, a causa della minor riserva tiroidea, della difficoltà ad alimentarsi, della ridotta sintesi epatica di TBG, dell'immaturità sia enzimatica che dell'asse ipotalamo-ipofisi-tiroide [1][2][3]. Il neonato prematuro di basso peso va incontro inoltre ad un'aumentata mortalità e morbidità perinatale, dovuta secondo alcuni autori (AA.) anche ai più bassi livelli di ormoni tiroidei, che persistono nelle prime 2-3 settimane di vita, con tendenza a risolversi spontaneamente entro il primo mese [3-8, 29,31]. Oltre a ciò, in questi neonati è riportato un peggior outcome neurologico a distanza [9]. Per tali motivi alcuni AA. hanno prospettato la necessità di somministrare ormoni tiroidei fin dai primi giorni di vita nel neonato di età gestazionale estremamente bassa (ELGAN) [10][11][12][13][14][15][16][17][18][19][20]. Tuttavia non sono presenti in letteratura lavori che abbiano valutato in 2°-3° giornata di vita, momento in cui i fenomeni di adattamento neonatale sono ormai completati, i livelli di TSH e tT4 in un numero sufficientemente ampio di soggetti ELGAN, suddivisi in varie fasce di età gestazionale (EG). I valori di riferimento ottenuti nelle varie fasce di età, possono essere utilizzati per stabilire l'opportunità o meno del trattamento ormonale sostitutivo del neonato estremamente prematuro. Abstract. The screening test for Congenital Hypothyroidism, performed in the 2nd -3rd day of life, highlighted in the premature infant significant lower levels of thyroid stimulating hormone (TSH) and thyroxine (tT4) than those found in the full term newborn. Studies carried out after birth in the preterm infant, showed a persistence of low levels of thyroid hormones (TH) in the first two weeks of life, with a tendency toward spontaneous resolution at the end of the first month. This hormone deficiency has an incidence which is inversely related to gestational age (GA). However, there are no works which have evaluated the levels of TSH and tT4 in an appropriate large population of extremely low gestational age newborns (ELGANs) in the 2nd -3rd day of life divided by different GAs. To assess the levels of TSH and tT4 in the 2nd -3rd day of life, from the lowest GA up to the end, in order to indicate the reference values which can be used to establish whether a replacement therapy with thyroid hormones in the premature infant is useful or not. In the present study we examined a total population of 1,671 adapted for gestational age newborns (AGA) of which 1,159 resulted in full term and 512 resulted in preterm. The population was divided into eight groups of [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42] and for each age group the median values of TSH and tT4 was determined. The TSH and tT4 were obtain...

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Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment

Cited by 42 publications

References 31 publications

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

Hipotireoidismo congênito: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

Thyroid Stimulating Hormone and Thyroxine Screening in the Preterm Newborn: Reference Values

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