Historia familiar de enfermedad tiroidea y riesgo de hipotiroidismo congénito en neonatos con síndrome de Down / Family history of thyroid disease and risk of congenital hypothyroidism in neonates with Down syndrome

Resumen Introducción: La historia familiar de enfermedad tiroidea (HFET) como factor de riesgo para hipotiroidismo congénito (HC), en síndrome de Down (SD) aún no ha sido explorada. Objetivo: Determinar si la HFET está asociada a mayor riesgo de HC en neonatos con SD. Método: Estudio de casos y controles en 220 neonatos con SD. Se compararon las pruebas de función tiroidea (PFT) de 37 con SD e HFET (casos), frente a las PFT de 183 recién nacidos con SD sin HFET (grupo de referencia). Se realizó análisis de regresión logística multivariante y se calculó la razón de momios (RM) y sus respectivos intervalos de confianza del 95 % (IC 95 %). Resultados: Nueve casos HC (4.1 %). El HC mostró asociación con la HFET (RMa = 8.3, IC 95 %: 2.0-34.3), particularmente en los varones (RMa = 9.0, IC 95 %: 1.6-49.6). La ausencia de HFET tuvo una RM de protección para HC (RMa = 0.4, IC 95 %: 0.1-0.8). Conclusiones: La HFET puede es una estrategia fácil y accesible para identificar pacientes con SD con mayor riesgo de HC.

Abstract Introduction: Family history of thyroid disease (FHTD) as risk factor for congenital hypothyroidism (CH) in patients with Down syndrome (DS) has not yet been explored. Objective: To determine whether FHTD is associated with an increased risk for CH in DS. Method: Case-control study in 220 neonates with DS. Thyroid function tests of 37 infants with DS and FHTD (cases) were compared with those of 183 DS newborns without FHTD (reference group). Data were analyzed using multivariate logistic regression analysis and adjusted odds ratios (aORs) with their respective 95 % confidence intervals (CI) were calculated. Results: Nine newborns with DS in our sample had CH (4.1 %). FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95 % CI: 2.0-34.3), particularly in males (aOR = 9.0, 95 % CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95 % CI: 0.1-0.8). Conclusions: FHTD detailed evaluation can be an easy and accessible strategy to identify those newborns with DS at higher risk for CH.

Geographic variations in the incidence of congenital hypothyroidism in China: a retrospective study based on 92 million newborns screened in 2013-2018 / 中华医学杂志(英文版)

BACKGROUND@#Although congenital hypothyroidism (CH) has been widely studied in Western countries, CH incidence at different administrative levels in China during the past decade remains unknown. This study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China, which could be helpful in the planning and implementation of preventative measures.@*METHODS@#The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese Newborn Screening Information System. Spatial auto-correlation was analyzed by Global Moran I and Getis-Ord Gi statistics at the provincial level. Kriging interpolation methods were applied to estimate a further detailed spatial distribution of CH incidence at city level throughout the mainland of China, and Kulldorff space scanning statistical methods were used to identify the spatial clusters of CH cases at the city level.@*RESULTS@#A total of 91,921,334 neonates were screened from 2013 to 2018 and 42,861 cases of primary CH were identified, yielding an incidence of 4.66 per 10,000 newborns screened (95% confidence interval [CI]: 4.62-4.71). Neonates in central (risk ratio [RR] = 0.84, 95% CI: 0.82-0.85) and western districts (RR = 0.71, 95% CI: 0.69-0.73) had lower probability of CH cases compared with the eastern region. The CH incidence indicated a moderate positive global spatial autocorrelation (Global Moran I value = 0.394, P  < 0.05), and the CH cases were significantly clustered in spatial distribution. A most likely city-cluster (log-likelihood ratio [LLR] = 588.82, RR = 2.36, P  < 0.01) and 25 secondary city-clusters of high incidence were scanned. The incidence of each province and each city in the mainland of China was estimated by kriging interpolation, revealing the most affected province and city to be Zhejiang Province and Hangzhou city, respectively.@*CONCLUSION@#This study offers an insight into the space clustering of CH incidence at provincial and city scales. Future work on environmental factors need to focus on the effects of CH occurrence.

Caracterización de pacientes con hipotiroidismo congénito en el Hospital Universitario San Ignacio entre 2001 y 2017 / Characterization of patients diagnosed with congenital hypothyroidism at the Hospital Universitario San Ignacio between 2001 and 2017

Introducción. El hipotiroidismo congénito es una causa prevenible de discapacidad cognitiva. Dada la ausencia de signos y síntomas al nacer, es necesario hacer pruebas de tamización para detectarlo. Su incidencia oscila entre uno de cada 2.500 y uno de cada 6.000 nacidos vivos. Objetivo. Describir las características antropométricas y demográficas de los participantes, así como medir la concentración de tirotropina (TSH) en sangre de cordón umbilical y de TSH y tiroxina libre (T4 libre) en el suero de los recién nacidos positivos en la prueba de tamización y de aquellos con hipotiroidismo congénito confirmado. Materiales y métodos. Se hizo un estudio observacional retrospectivo de un periodo de 17 años mediante la revisión de los registros de laboratorio clínico y las historias para establecer las características demográficas y antropométricas en el momento del nacimiento. Resultados. Se analizaron 41.494 recién nacidos. Se encontraron 217 (0,52 %) recién nacidos con prueba positiva de tamización, 19 (8,76 %) de ellos con diagnóstico confirmado mediante pruebas séricas (TSH y T4 libre), para una incidencia de uno por cada 2.183 nacidos vivos. El 78,95 % de los casos de hipotiroidismo congénito correspondió a nacidos a término, el promedio de la edad gestacional fue de 37,3 semanas, similar al de quienes no lo presentaban. No hubo diferencia en el promedio de peso ni en la talla al nacer entre los afectados y los no afectados. La concentración de TSH en sangre de cordón umbilical fue significativamente mayor en los casos de hipotiroidismo congénito que en los recién nacidos sanos. Conclusiones. La incidencia de hipotiroidismo congénito fue similar a la encontrada en los estudios consultados. No hubo diferencias clínicas relevantes entre los casos confirmados y los descartados, lo que resalta la pertinencia de la tamización neonatal para el diagnóstico temprano y el tratamiento oportuno.

Introduction: Congenital hypothyroidism is a preventable cause of cognitive disability. Due to the absence of symptoms and signs in the newborn, it is necessary to perform screening tests. Its incidence ranges between 1:2,500 and 1:6,000. Objective: To describe the anthropometric and demographic characteristics, as well as the cord TSH levels, serum TSH, and serum T4L levels of the positive patients during screening and patients with confirmed congenital hypothyroidism. Materials and methods: We conducted a retrospective observational study for 17 years based on the review of clinical laboratory and medical records to describe the demographic and anthropometric characteristics of the patients at the time of diagnosis. Results: We analyzed 41,494 newborns in the 17 years of follow-up; 217 (0.52%) were positive in the screening test and the diagnosis was confirmed by serum tests (TSH and free T4) in 19 cases (8.76%) for an incidence of one for every 2,183 live births; 78.95% of the children with congenital hypothyroidism were born full-term and the average gestational age was 37.3 weeks, similar to that of those with no congenital hypothyroidism. There was no difference in the average weight and height at birth between the children with the condition and those who did not have it. TSH in the cord in the cases of congenital hypothyroidism was significantly higher than in the discarded cases. Conclusions: The incidence of congenital hypothyroidism was similar to that found in the literature. There were no relevant clinical differences between confirmed and ruled out cases reflecting the relevance of neonatal screening.

Hipotireoidismo congênito como fator de risco para os transtornos do processamento auditivo central / Congenital hypothyroidism as a risk factor for central hearing process disorders

RESUMO Objetivo: Investigar a manifestação de sintomas do transtorno do processamento auditivo central em crianças com hipotireoidismo congênito. Métodos: Estudo de caráter exploratório, descritivo e transversal com 112 pacientes com hipotireoidismo congênito com idade ≥5 anos. Realizou-se entrevista com os pais/cuidadores no momento da espera da consulta médica. Portadores de outras afecções médicas foram excluídos. Como instrumento de pesquisa utilizou-se o protocolo estruturado de anamnese para avaliação do processamento auditivo rotineiramente empregado por audiologistas. A análise estatística utilizou o teste Qui-quadrado. Resultados: A distribuição por sexo foi semelhante (meninas: 53,3%). Os casos não-disgenesia constituíram a forma fenotípica mais prevalente para o hipotireoidismo congênito (88,4%), e verificou-se que 65,3% das crianças apresentavam algum episódio de níveis séricos irregulares de hormônio tireoestimulante. Dentre as manifestações mais frequentes dos sintomas do transtorno do processamento auditivo central, as queixas relaciondas às funções cognitivas auditivas, como: figura-fundo (83,0%), atenção auditiva (75,9%) e memória auditiva (33,0%) foram as mais evidentes. Reclamações relacionadas ao rendimento escolar foram reportadas em 62,3%. Conclusões: Os dados obtidos evidenciaram altas frequências de sintomas de defasagem nas funções cognitivas relacionadas ao processamento auditivo central, em especial na atenção auditiva, figura-fundo e memória auditiva nos portadores do hipotireoidismo congênito.

ABSTRACT Objective: To investigate the presence of central auditory processing disorder symptoms in children with congenital hypothyroidism. Methods: An exploratory, descriptive, cross-sectional study of 112 patients with congenital hypothyroidism aged ≥5 years old. An interview was held with the parents/caregivers at the time of the medical consultation. Patients with other medical conditions were excluded. As a research instrument, the structured protocol of anamnesis was used to evaluate the auditory processing routinely used by audiologists. For statistical analysis, the chi-square test was used. Results: Sex distribution was similar in both boys and girls (girls: 53.3%). The most prevalent phenotypic form of congenital hypothyroidism was no dysgenesis (88.4%), and 65.3% of the children had an episode of irregular serum thyroid-stimulating hormone (TSH) levels. Among the manifestations of the most frequent central auditory processing disorder symptoms, problems were reported with regard to cognitive functions, as they related to hearing, such as figure-background ability (83.0%), auditory attention (75.9%) and auditory memory (33.0%). Complaints related to school performance were reported in 62.3% of the cases. Conclusions: The data obtained show a high frequency of lag symptoms in cognitive functions related to central auditory processing, particularly with regard to auditory attention, figure-background ability and auditory memory in patients with congenital hypothyroidism.

Higher prevalence of permanent congenital hypothyroidism in the Southwest of Iran mostly caused by dyshormonogenesis: a five-year follow-up study

ABSTRACT Objective: The incidence of congenital hypothyroidism (CH) varies globally. This 5-year study aimed to determine the prevalence of permanent CH in the southwest of Iran. Materials and methods: Between January 2007 and December 2009, all newborns in Ahvaz, the biggest city in the southwest of Iran, were screened for CH using a heel-prick sample for thyrotropin (TSH) levels. Subjects with TSH ≥ 5 mU/L were evaluated for T4-TSH. Infants with T4 < 6.5 µg/dL, TSH > 10 mU/L, and normal T4 but persistent (> 60 days) high TSH were considered to have CH. After the third birthday, treatment was discontinued, and T4-TSH was reevaluated; subjects with TSH ≥ 10 mU/L were investigated using thyroid Tc99 scintigraphy (TS). Based on TS, they were classified as normal, dysgenetic, or athyretic (agenesis). Results: Screening was performed for 86,567 neonates, and 194 were confirmed to have CH (100 males; F/M = 0.94; overall incidence 1:446). After the third birthday, reevaluation was performed in all (except 18 that were not accessible). From 176 patients, 81 (46%) were diagnosed with permanent CH, and 95 were discharged as transient. Considering the same percentage in the lost cases, the prevalence of permanent CH was found to be 1:970. TS performed for 53 of the permanent subjects found agenesis/dysgenesis in 25 (F:M = 15:10) and a normal result in 28 (F:M = 11:17), indicating dyshormonogenesis as the cause in more than 50% of subjects. Conclusions: The incidence of CH in this area was found to be higher than that in other countries but less than the incidence rate reported in central Iran. The large number of transient cases of CH suggests environmental or maternal causes for the incidence rather than a genetic basis.

Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10 µIU/mL have congenital hypothyroidism / Triagem neonatal: 9% das crianças com TSH em papel filtro entre 5 e 10 µUI/mL têm hipotireoidismo congênito

Abstract Objectives: To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10 µIU/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010, with b-TSH levels between 5 and 10 µIU/mL, who were followed-up during the first two years of life when there was no serum TSH normalization. The diagnosis of congenital hypothyroidism was defined as serum TSH ≥10 µIU/mL and start of levothyroxine treatment up to 2 years of age. Results: Of the 380,741 live births, 3713 (1.04%) had filter paper TSH levels between 5 and 10 µIU/mL and, of these, 339 (9.13%) had congenital hypothyroidism. Of these, 76.11% of the cases were diagnosed in the first three months of life and 7.96% between 1 and 2 years of age. Conclusion: The study showed that 9.13% of the children with b-TSH levels between 5 and 10 µIU/mL developed hypothyroidism and that in approximately one-quarter of them, the diagnosis was confirmed only after the third month of life. Based on these findings, the authors suggest the use of a 5 µIU/mL cutoff for b-TSH levels and long-term follow-up of infants whose serum TSH has not normalized to rule out congenital hypothyroidism.

Resumo Objetivos: Determinar a prevalência de hipotireoidismo congênito em crianças com TSH em papel filtro (TSH-f) entre 5 e 10 µUI/mL na triagem neonatal. Métodos: Estudo retrospectivo que incluiu crianças triadas de 2003 a 2010, com TSH-f entre 5 e 10 µUI/mL, acompanhadas nos dois primeiros anos de vida quando não houve normalização do TSH sérico. O diagnóstico de hipotireoidismo congênito foi definido como TSH sérico igual ou superior a 10 µUI/mL e início de tratamento com levotiroxina até os dois anos. Resultados: Dos 380.741 nascidos vivos triados, 3.713 (1,04%) apresentaram TSH-f entre 5 e 10 µUI/mL e, desses, 339 (9,13%) tinham hipotireoidismo congênito. Desses, 76,11% dos casos foram diagnosticados nos primeiros três meses de vida e 7,96% entre um e dois anos. Conclusão: O estudo mostra que 9,13% das crianças com TSH-f entre 5 e 10 µUI/mL desenvolveram hipotireoidismo e que em cerca de um quarto delas o diagnóstico só se confirmou após o terceiro mês de vida. Com base nesses achados, sugere-se, para descartar o hipotireoidismo congênito, o uso do ponto de corte de TSH-f de 5 µUI/mL e o acompanhamento em longo prazo dos lactentes cujo TSH sérico não tenha se normalizado.

Ação odontológica na triagem neonatal direcionada ao hipotireoidismo congênito / Dental action in the neonatal screening directed to congenital hypothyroidism

O hipotireoidismo congênito é um distúrbio endócrino caracterizado pela diminuição dos níveis séricos dos hormônio da glândula tireóide. Este afeta o metabolismo do cálcio, e, portanto, a formação dos ossos e dentes. É comum nestes pacientes anomalias de formação dentária, atraso na erupção dentária, hipodesenvolvimento do côndilo mandibular e macroglossia. Somados, estes fatores podem ainda levar a uma má-oclusão e ao desenvolvimento inadequado das funções orais. Diante do exposto, Avaliou-se através deste estudo as condições clínicas orais e promoveu-se o atendimento odontológico dos pacientes com esta disfunção endócrina vinculados ao serviço de triagem neonatal do Hospital Universitário da Universidade Federal de Sergipe. Trata-se de um projeto de extensão em que foram atendidos 205 pacientes com idade entre 01 mês e 14 anos, no período de fevereiro à novembro de 2016, os quais passaram por uma avaliação clínica e receberam orientações preventivas. A partir do exame clínico, observou-se que 20% dos pacientes apresentavam alguma necessidade de tratamento odontológico, sendo esses, agendados e encaminhados para a realização do procedimento clínico odontológico. Com os dados obtidos foi possível concluir que é essencial dar aos responsáveis e pacientes as informações necessárias para a prevenção de doenças bucais, estando elas correlacionadas ou não com o Hipotireoidismo Congênito. Além disto, a realização de tratamento clínico, preventivo e curativo nesses pacientes, agregou a Odontologia ao plano multiprofissional já existente representado pelo programa de triagem neonatal do HU ­ UFS.(AU)

Congenital hypothyroidism is an endocrine disorder characterized by a decrease in the serum levels of thyroid gland hormones. This affects the metabolism of calcium, and therefore the formation of bones and teeth. It is common on those patients dental formation anomalies, delayed dental eruption, hypo development of the mandibular condyle and macroglossia. In addition, these factors may also lead to malocclusion and inadequate development of oral functions.In view of the above, this study was chosen as oral clinical conditions and it was promoted in the dental care of patients with this endocrine dysfunction linked to the neonatal screening service of the University Hospital of the Federal University of Sergipe. It is an extension project in which 205 patients aged between 1 month and 14 years were attended, in the period of February to November of 2016, who underwent a clinical evaluation and received preventive guidance. From the clinical examination, it was observed that 20% of the patients had a need for dental treatment, and they were scheduled and sent to perform a dental procedure. With the obtained data, it was possible to conclude that it is essential to give the responsible ones and patients the necessary information for the prevention of oral diseases, being they correlated or not with Congenital Hypothyroidism. In addition, performing clinical, preventive and curative treatment in these patients, added the Dentistry to the existing multiprofessional plan represented by the neonatal screening program of the HU ­ UFS.(AU)

Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe, Brazil

ABSTRACT Objectives To assess the evolution to permanent or transient conditions in children with positive neonatal TSH tests in Sergipe, Brazil, from 2004 to 2010. Subjects and methods Out of 193,794 screened newborns, 713 presented a neonatal TSH level higher than the local cutoff (5.2 µU/mL). From the confirmatory serum TSH values, the children were diagnosed with initial congenital hypothyroidism (CH) or suspect CH. From the evolution, they were classified as permanent CH, hyperthyrotropinemia, or transient TSH elevation. The mean incidence of each final condition was calculated for the total period of time. Results The initial diagnosis included 37 CH (18.1%) and 167 suspect CH (81.9%) cases. The final diagnosis included 46 cases of permanent CH (22.5%), 56 of hyperthyrotropinemia (27.5%), and 102 of transient TSH elevation (50.0%). Out of the 37 cases of initial CH, 23 (62.2%) had permanent CH, nine (24.3%) had hyperthyrotropinemia, and five (13.5%) had transient TSH elevation. Out of the 167 suspect CH cases, 23 (13.8%) had permanent CH, 47 (28.1%) had hyperthyrotropinemia and 97 (58.1%) had transient TSH elevation. The mean incidence after the follow up was 1:4,166 for permanent CH, 1:3,448 for hyperthyrotropinemia, and 1:1,887 for transient TSH elevation. Eighty-six percent of the children with an initial diagnosis of CH and 41.9% with suspect CH had a permanent condition (CH or hyperthyrotropinemia). Conclusions The follow-up of children with an initial diagnosis of CH or suspect CH is necessary to determine whether the disorder is permanent because predicting the evolution of the condition is difficult.

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population

BACKGROUND: Most cases with congenital hypothyroidism (CH) are usually sporadic, while about 20% of the cases are caused by genetic defects. Little information is available regarding the mutation incidence and genetic heterogeneity of CH in Koreans. We aimed to determine the mutation incidence of CH in newborn screenings (NBS) and to evaluate the frequency and spectrum of mutations underlying CH. METHODS: A total of 112 newborns with thyroid dysfunction were enrolled from 256,624 consecutive NBS. Furthermore, 58 outpatients with primary CH were added from an endocrine clinic. All coding exons of TSHR, PAX8, TPO, DUOX2, DUOXA2, and SCL5A5 were sequenced. RESULTS: The mutation incidence of CH was estimated to be 1 in 6,580 newborns. A total of 36 different mutations were identified in 53 cases. The overall mutation positive rate was 31%. The DUOX2 mutations were the most prevalent in both newborns and outpatients. Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH. CONCLUSIONS: The mutation incidence of CH was considerably higher than expected in the Korean newborn population. This study revealed seven different recurrent mutations underlying CH. We conclude that DUOX2 mutations are a frequent cause of CH in the Korean population.

Retard psychomoteur revelateur d'une hypothyroidie congenitale chez un nourrisson de 14 mois a Bouake (Cote d'Ivoire)

Introduction. En Cote d'Ivoire; le depistage systematique de l'hypothyroidie ne fait pas encore partie des directives nationales du ministere de la sante. Aussi; l'hypothyroidie est decouverte souvent tardivement au stade des complications. L' objectif de ce travail etait de decrire les principales caracteristiques epidemiologiques; diagnostiques; therapeutiques et evolutives de l'hypothyroidie congenitale Population et methode. Nous rapportons l'observation du nourrisson D.Z; age de 14 mois; admis en pediatrie au CHU de Bouake en novembre 2013 pour un retard de croissance et de developpement psychomoteur. Les antecedents pre et per-nataux etaient sans particularite. En periode neonatale; le nourrisson etait mou; dormait beaucoup; avait une respiration bruyante et une constipation. Par la suite il s'est installe un retard psychomoteur et de croissance d'aggravation progressive sans fievre. A 6 mois; le nourrisson ne tenait pas la tete dans l'axe; n'avait pas de poursuite oculaire; ne reconnaissait pas sa mere; ne repondait pas aux sourires et sa croissance semblait ralentie. A 14 mois; D.Z etait devenu plus hypotonique; sa respiration toujours bruyante; ne s'asseyait toujours pas et ne repetait aucunes syllabes. En revanche il suivait du regard; entendait et avait acquis le sourire-reponse. Plusieurs medications traditionnelles et modernes ont ete entreprises sans succes. Les investigations para cliniques ont permis de retenir le diagnostic d'une hypothyroidie congenitale. Conclusion. Les signes de l'hypothyroidie congenitale; au debut; sont frustres et egarent le diagnostic. Une collaboration multidisciplinaire incluant le gynecologue obstetricien; le pediatre et l'endocrinologue est indispensable pour le diagnostic precoce et la prise en charge adaptee afin d'eviter la regression psychomotrice prejudiciable a l'enfant

[Evaluation of relationship between neonatal jaundice and incidence rate of congenital hypothyroidism in newborns at selected educational hospitals in Mashhad, Iran]

Congenital hypothyroidism [CH] is one of the most urgent diseases of the newborns; with preventable complications, such as mental retardation, by early diagnosing and treatment. It is often asymptomatic, but it can induce severe and or prolonged jaundice. We aimed to assess relationship between neonatal jaundice, as a nonspecific clinical sign, and incidence rate of CH. This cross-sectional study was performed on 140 healthy term newborns affected jaundice that admitted to 4 selected educational Hospital in Mashhad, Iran. As CH causes both prolonged and severe hyperbilirubinemia, all 1-28- day old newborns with various causes of jaundice with total serum bilirubin values of > 10 mg/dl were included and evaluated for thyroid function tests. Thyroid-stimulating hormone [TSH]> 10 mu/l and thyroxin [T4] <7 microg/dl were considered as CH. Serum value of T4 was normal at 97.86% and low at 2.14%. 1.43% of newborns had serum level of TSH >10 mu/l. More investigation reavealed the incidence rate of hypothyroidism at approximately 1 case in 140 birth which means 7 cases in 1000 birth [7:1000]. In present study, the incidence rate of CH was 7:1000. As usual, there is no clinical finding in CH at birth, so more attention should be paid to nonspecific signs of hypothyroidism that one of the earliest is severe or prolonged jaundice. Also, follow up should be considered for these newborns

La endemia bocio-cretínica en la República Argentina. Reseña cronológica breve y actualizada / La Endemic goiter in Argentina. Nowadays statistical data

Desde épocas antiguas el bocio endémico fue considerado un problema grave, por su extensión y formas clínicas acentuadas, además de su asociación con el cretinismo, también endémico, especialmente en el NOA argentino, no así en el NEA, donde no se comunicaban casos de cretinismo. Estos problemas, de origen geológico, se dan por la pobreza de yodo en ese medio y, consecuentemente en las aguas de bebida. Este problema fue postergado hasta 1965 con la realización de dos encuestas nacionales, sobre muestras probabilísticas sobre 47.619 varones de 20 años en 10 provincias y, sobre 51.768 escolares. En 1967, con suficientes datos, por la extensión de la endemia se legisló con alcance nacional, con la Ley 17.259 que fue sancionada y promulgada en 1º de mayo de 1967. La misma establecía la obligatoriedad del expendio de sal yodada, para uso alimentario humano y animal con una parte de yodo en 30.000 partes de sal, que comenzó a hacerse efectiva en 1970. Investigaciones posteriores han demostrado la efectividad de las medidas sobre la patología tiroidea...

It was known since ends of XIX century the severity of endemic goiter and chretinism, specially in the northwest zone of the country. It has been considered a geological disease because of the lack of iodine in soils and waters. In 1965 the problem was considered and the first place steps were to qualificate how extense was the disease, and two surveys; one in probabilistic samples on 47,619 males of 20 years old, in 10 provinces, and another on 51,768 schoolchildren’s. In 1967 it was decided to legislate to reach the nation with the Law 17,259 approved in May the first, 1967. Effectiveness of the measures were probed by investigations made lately...

Prevalência de patologias detectadas pela triagem neonatal em Santa Catarina / Prevalence of disorders detected by newborn screening in Santa Catarina

OBJETIVO: Avaliar a prevalência das patologias fenilcetonúria (FNC), hipotireoidismo congênito (HC), fibrose cística (FC), hemoglobinopatias (HB) e hiperplasia adrenal congênita (HAC), no Estado de Santa Catarina, a fim de delinear o perfil da população catarinense em relação a essas patologias. MATERIAIS E MÉTODOS: Foi realizado um levantamento de dados do Programa de Triagem Neonatal da Secretaria de Estado da Saúde de Santa Catarina, no período de 2004 a 2008. RESULTADOS: No período de estudo, foram obtidas as seguintes prevalências: FCN 1:28.862, HC 1:2.876, FC 1:5.121, HB S 1:14.446 e para HAC 1:11.655 crianças triadas. CONCLUSÕES: A prevalência média da FNC mostrou-se inferior à prevalência nacional, ao passo que a da HAC foi superior; por sua vez, a do HC mostrou-se semelhante às prevalências mundial e nacional. Além disso, o predomínio da população caucasiana no Estado resultou em uma prevalência reduzida da HB e uma prevalência aumentada da FC em relação ao restante do país.

OBJECTIVE: To evaluate the prevalence of the diseases phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH), in the state of Santa Catarina, in order to delineate the local population profile for these diseases. MATERIALS AND METHODS: A survey of data from the Newborn Screening Program of the Ministry of Health of Santa Catarina, in the period 2004 to 2008 was carried out. RESULTS: During the study period, the following prevalences were obtained: 1:28,862 children screened for PKU; 1:2,876 children screened for CH; 1:5,121 children screened for CF; 1:14,446 children screened for HB S; and 1:11,655 children screened for CAH. CONCLUSIONS: The prevalence of PKU proved to be lesser than the national prevalence, while CAH prevalence was greater. On the other hand CH prevalence was similar to the global and national prevalence. Moreover, the predominance of the Caucasian population in the state resulted in reduced prevalence of HB S and increased prevalence of CF in relation to the rest of the country.

Evolução do programa de triagem neonatal no estado do Tocantins / Evolution of the neonatal screening program in the state of Tocantins

OBJETIVO: Avaliar o Programa de Triagem Neonatal do Estado do Tocantins de 1995 a 2011. MATERIAIS E MÉTODOS: A coleta de dados foi realizada por meio de entrevista com os responsáveis pelo serviço, por análise de prontuários de pacientes com diagnóstico de fenilcetonúria (PKU) ou hipotireoidismo congênito (HC) atendidos pelo programa e por entrevista com pais e/ou responsáveis por pacientes em acompanhamento. RESULTADOS: A cobertura de triagem neonatal aumentou de 32,3% para 76,6% depois da implantação do Programa Nacional de Triagem Neo­natal (PNTN). A prevalência de PKU e de HC no período analisado foi de 1:28.309 e de 1:4.632 nascidos vivos, respectivamente. A idade média das crianças na coleta da primeira amostra de sangue (PKU: 9,6 ± 6,3 dias; HC: 13,3 ± 10,3 dias) e no início do tratamento (PKU: 57,0 ± 17,6 dias; HC: 95,6 ± 57,6 dias) foi superior às preconizadas pelo Ministério da Saúde. A avaliação dos pais sobre a qualidade do acompanhamento realizado foi classificada como satisfatória por 100% dos entrevistados. CONCLUSÃO: Embora tenha havido grande evolução do programa de triagem neonatal deste Estado, há necessidade de maior incentivo governamental para que o programa seja otimizado e possa avançar para as fases seguintes do PNTN.

OBJECTIVE: To evaluate the Neonatal Screening Program in the State of Tocantins from 1995 to 2011. MATERIALS AND METHODS: Data collection was conducted by means of interviews with those responsible for the service, by the analysis of medical records of patients diagnosed with phenylketonuria (PKU) and congenital hypothyroidism (CH) that were enrolled in the program, and by interviews with parents and/or guardians of the patients monitored. RESULTS: Program coverage increased from 32.3% to 76.6% after the implementation of the National Newborn Screening Program (PNTN). The prevalence of PKU and CH was 1:28,309 and 1:4,632 live births, respectively. The mean ages at the collection of the first blood sample (PKU: 9.6 ± 6.3 days; CH: 13.3 ± 10.3 days) and at the beginning of the treatment (PKU: 57.0 ± 17.6 days; CH: 95,6 ± 57.6 days) were greater than recommended by the Ministry of Health. The quality of monitoring was considered satisfactory by 100% of the parents. CONCLUSION: Although there have been great developments in neonatal screening program in this state, there is need for greater government incentives to optimize the program and to make the PNTN advance to its next phases.

Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program / Fenilcetonúria, hipotireoidismo congênito e hemoglobinopatias: questões de saúde pública para um programa de triagem neonatal brasileiro

In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.

Neste estudo, foi analisada a frequência de detecção do hipotireoidismo congênito, fenilcetonúria e hemoglobinopatias no Programa de Triagem Neonatal do Estado do Rio de Janeiro, Brasil, entre 2005 e 2007. Havia dois Serviços de Referência em Triagem Neonatal (designados SRTN A e B) com diferenças programáticas. Em 2007, a cobertura alcançou 80,7%. O aumento na incidência do hipotireoidismo congênito (1:1.030 em 2007) foi atribuído à redução no valor de corte do TSH ao longo do tempo. As incidências discrepantes da fenilcetonúria entre os modelos (SRTN A - 1:28.427; SR-TN B - 1:16.522) podem ser parcialmente explicadas pelo pequeno número de casos. A incidência da doença falciforme e do traço falcêmico foi uniformemente elevada (1:1.288 e 1:21, respectivamente), sendo coerente com a composição étnica da população. As diferenças nos métodos laboratoriais e valores críticos, além de outras questões programáticas, podem explicar a variabilidade nos resultados e limitar a análise do papel dos determinantes biológicos e ambientais sobre a ocorrência das doenças.

Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects / Incidência do hipotireoidismo congênito no município de Uberaba/Minas Gerais e avaliação etiológica dos afetados

OBJECTIVE: The objective of this study was to determine the incidence and etiology of congenital hypothyroidism (CH) in Uberaba, MG. SUBJECTS AND METHODS: From 2001 to 2010, by reviewing patient files from a public reference outpatient unit. The screening program covered 88% of live-born children. RESULTS: CH was diagnosed in 16 children, representing an incidence of 1:2,017 live-born children screened. The etiological evaluation was done in 15 children and revealed seven cases of thyroid dysgenesis, seven of dyshormonogenesis, and one case of transient hypothyroidism. One child moved away from the state before etiological investigation was carried out. CONCLUSION: We concluded that both the incidence of CH and of dyshormonogenesis as the main causes of CH were increased in the investigated region, but molecular studies are necessary for a better definition of etiology.

OBJETIVO: O objetivo deste estudo foi determinar a incidência e etiologia do hipotireoidismo congênito (HC) em Uberaba, MG. PACIENTES E MÉTODOS: Mediante revisão dos prontuários de pacientes atendidos no ambulatório de referência do serviço público, no período de 2001 a 2010. RESULTADOS: A cobertura do programa foi de 88%, sendo diagnosticadas 16 crianças com HC, com incidência de 1:2.017 nascidos vivos investigados. A avaliação etiológica foi realizada em 15 crianças, sendo diagnosticados sete casos de disgenesia tireoidiana, sete casos de disormonogênese e um caso de hipotireoidismo transitório. Uma criança não foi investigada devido à mudança de residência para outro estado. CONCLUSÕES: Concluímos que a incidência do HC é maior nesta região, assim como a disormonogênese como principal causa, sendo necessários estudos moleculares para melhor definição etiológica.

Incertidumbres y vulnerabilidades de la gestión sanitaria del hipotiroidismo congénito: un estudio de caso / Uncertainties and vulnerabilities of management of congenital hypothyroidism: a case study abstract

Objetivo: Explorar la gestión sanitaria del diagnóstico y seguimiento de niños y niñas con alta sospecha de hipotiroidismo congénito (HC), nacidos en Clínica Dávila entre el 2006 y 2010. Material y método: Se utiliza la metodología de estudio de caso, usando como unidad de análisis la Clínica Dávila como parte de la red del Servicio de Salud Metropolitano Norte, construyendo un marco de análisis en base a una revisión de la literatura científica y las recomendaciones nacionales en el tema estudiado. Se ocupan fuentes cuantitativas y cualitativas de información para evaluar el cumplimiento de los objetivos de salud pública, la función de diagnóstico, seguimiento y la gestión de la información, respecto del programa de pesquisa y tratamiento de hipotiroidismo congénito, en la unidad de análisis descrita. Resultados: En cuatro años se han confirmado por laboratorio 28 casos de HC, de los cuales el 77 por ciento correspondió a beneficiarios Fonasa. La clínica presenta fortalezas en la etapa de diagnóstico y registro del problema de salud, pero ninguna institución realiza seguimiento activo de los casos confirmados. Se observan fragmentación de la información de utilidad para el seguimiento y gestión de los sospechosos y confirmados de HC, así como una falta de análisis de la existente. Discusión: Se aprecia una alta incertidumbre respecto del seguimiento y resultados sanitarios de los niños y niñas con HC, nacidos en la Clínica Dávila y que son beneficiarios de Fonasa. En esta fase del programa este grupo no está contemplado en el marco normativo nacional, ni es preocupación de los equipos que lo implementan, lo cual no se corresponde con las funciones y atribuciones del nivel prestador y regulador de salud.

Objective: Explore management of diagnosis and follow-up of boys and girls with a high risk of congenital hypothyroidism (CH) born in the Davila Clinic between 2006 and 2010. Material and method: A case study logy was used, using the Davila Clinic as the unit of analysis, as part of the Northern Metropolitan Health Service. A framework for analysis was developed based on review of scientific literature and the national recommendations on the topic. Quantitative and qualitative sources were used to evaluate compliance with public health objectives, diagnosis, follow-up, and information management, in the congenital hypothyroidism program at the Davila Clinic. Results: In four years, 28 cases of H have been confirmed by laboratory, of which 77 percent were Fonasa beneficiaries. The clinic presents strengths in diagnosis and recording cases, but no institution carries out active follow up of the con- firmed cases. Fragmentation of useful information for follow-up and management of suspected cases was observed, as well as a lack of analysis of the problem. Discussion: A high level of uncertainty was found, with respect t follow-up and outcomes for children with CH born in the Davila Clinic and who are also Fonasa beneficiaries. In this phase of the program, this group is not being correctly monitored according to national standards.

Análise das prevalências de doenças detectadas pelo programa nacional de triagem neonatal no município de Araraquara no ano de 2009 / Prevalence analysis of diseases detected by the National Neonatal Screening Program in Araraquara city (Brazil) in the year 2009

O Programa Nacional de Triagem Neonatal (PNTN) implantado no Brasil tem como objetivo, considerando cada fase de execução local, detectar doenças como fenilcetonúria, hipotereoidismo congênito, hemoglobinopatias e fibrose cística. O objetivo deste trabalho foi analisar, através de um estudo transversal e observacional, a prevalência das doenças detectadas pelo PNTN no município de Araraquara emitidas pela APAE de São Paulo no período compreendido entre abril e dezembro de 2009. Os resultados mostram que o município apresentou, no ano de 2009, prevalência de fenilcetonúria e hipotireoidismo congênito de 0,06% acima da média nacional, que é de 0,01% e 0,03%, respectivamente. Com relação às hemoglobinopatias, encontrou-se prevalência do traço para anemia falciforme de 2,15% abaixo da média nacional, que é de 2,6%. A prevalência do traço C no município foi de 0,57%, semelhante a valores nacionais disponíveis na literatura. FA BART´S confirmado apresentou valor de 0,13% abaixo da média de 0,38% da região do município de Araraquara. A realização do teste do pezinho e o aconselhamento aos cuidadores são fatores importantes para redução de morbidades relacionadas à evolução dessas doenças.

The National Neonatal Screening Program (NNSP) set up in all Brazil, aims, through planned phases of local implementation, to detect diseases such as phenylketonuria, congenital hypothyroidism, hemoglobinopathies and cystic fibrosis. The aim of this study was to assess, through a cross-sectional observational study, the prevalence of the diseases detected by the NNSP in the city of Araraquara, in records issued by the São Paulo APAE laboratory in the period between April and December 2009.The results show that Araraquara had a prevalence of phenylketonuria and congenital hypothyroidism 0.06% above the national averages of 0.01% and 0.03% respectively. With respect to hemoglobinopathies, the prevalence of sickle cell trait was 2.15% below the national average of 2.6%. The prevalence of Hb C in the city was 0.57%, similar to national values reported in the literature. Confirmed Hb Bart´s had a prevalence of 0.13% in Araraquara, below the average of 0.38% for the surrounding region. The neonatal screening by heel-prick test and counseling for caregivers are important factors in reducing morbidity related to the evolution of these diseases.