Atipicidad en el hipotiroidismo congénito: síndrome de Kocher-Debré-Semelaigne. Reporte de caso / Atypicality in congenital hypothyroidism: Kocher-Debré-Semelaigne. Case report

El síndrome de Kocher Debré Semelaigne (SKDS) se describe dentro de las formas clínicas atípicas asociadas al hipotiroidismo congénito (HC) severo, no tratado y de larga evolución, con manifestaciones de pseudohipertrofia muscular difusa y debilidad muscular predominantemente proximal, reversible al reemplazo con tiroxina. Es raro en países con programas de pesquisa neonatal. Objetivo: reportar el caso de un niño con diagnóstico de HC por disembriogenesis (atireosis), que se mantuvo con mal control de la enfermedad durante el primer año de vida y manifestaciones miopáticas desde la etapa neonatal. Resultados: se confirma el diagnóstico a través de estudios específicos, con evidencias de patrones miopáticos característicos. Se logra regresión clínica parcial a los nueve meses de mantener estabilidad de la TSH y las hormonas tiroideas (HT), coincidiendo con la normalización de la enzima de músculo creatinfosfoquinasa (CPK). A los 12 años de seguimiento, mantenía ligera hipertrofia de la musculatura de las extremidades superiores, dorsales y glúteos, a pesar de mantenerse eutiroideo. Conclusiones: la presencia de hipertrofia muscular debe considerarse un dato clínico de sospecha de hipotiroidismo, aun con la implementación de los programas de pesquisa neonatal. Es posible la regresión parcial de la pseudohipertrofia muscular con el restablecimiento de la función tiroidea. Se debe tomar en cuenta en el diagnóstico diferencial de otras miopatías primarias

Kocher-Debré-Semelaigne Syndrome (SKDS) is described within the atypical clinical forms associated with severe, untreated and long-standing congenital hypothyroidism with manifestations of diffuse muscle pseudohypertrophy and predominantly proximal muscle weakness, reversible to replacement with levothyroxine. objective: To report the case of a child with congenital hypothyroidism due to disembriogenesis (atyreosis), who remained with poor control of the disease during the 1st year of life and myopathic manifestations from de neonatal stage. Results: The diagnosis is confirmed through specific studies, with evidence of characteristic myopathic patterns. Partial clinical regression is achieved 9 months after maintaining stability of TSH and thyroid hormones, coinciding with the normalization of the muscle enzyme creatine phosphokinase (CPK). At 12 years of follow-up, he maintained slight hypertrophy of the muscle of the upper extremities, dorsal and buttocks, despite remaining euthyroid. Conclusions: The presence of muscular hypertrophy should be considered a clinical finding of suspected hypothyroidism, even with the implementation of neonatal screening programs. Partial regression of muscle pseudohypertrophy is possible with restoration of thyroid function, and should be taken into account in the differential diagnosis of other primary myopathies

Mechanisms involved in hearing disorders of thyroid ontogeny: a literature review

ABSTRACT Endocochlear, retrocochlear and/or central origin hearing damage may be related to the absence of appropriate levels of thyroid hormone during morphogenesis and/or auditory system development. Hearing disorders related to the thyroid are not well studied, despite speculation on the pathophysiological mechanisms. The objective of this review was to characterize the main pathophysiological mechanisms of congenital hypothyroidism and to evaluate the relationship with central and peripheral hearing disorders. We conducted a literature review using the databases MedLine, LILACS, Cochrane Library, SciELO, Institute for Scientific Information (ISI), Embase, and Science Direct between July and September on 2016. We identified the studies that address hearing disorder mechanisms on the congenital hypothyroidism. Congenital hypothyroidism may have clinical and subclinical manifestations that affect the auditory system and may be a potential risk factor for hearing impairment. Hearing impairment can severely impact quality-of-life, which emphasizes the importance of monitoring and evaluating hearing during the clinical routine of these patients.

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)

Perfiles cognitivos en pacientes con hipotiroidismo congénito detectado y tratado en forma temprana / Cognitive profiles of patients with early detected and treated congenital hypothyroidism

Introducción. Los niños con hipotiroidismo congénito (HC) detectados por pesquisa neonatal y tratados adecuadamente presentarían defectos cognitivos leves. Objetivos. Evaluar el coeficiente intelectual de niños con HC e identificar la presencia de déficits cognitivos específicos. Población y métodos. Se seleccionó un grupo de 60 niños con HC, de entre 9 y 10 años, detectados por pesquisa neonatal y tratados adecuadamente desde el primer mes de vida, y se comparó con un grupo control de 60 niños sin HC de la misma edad. Fueron criterios de inclusión la ausencia de patología intercurrente, concurrencia a jornada escolar simple y padres con nivel escolar mínimo de secundaria completa. En entrevistas individuales, se administraron la escala de inteligencia Wechsler para niños, tercera edición, figura compleja de Rey, test Woodcock-Muñoz revisado, Conners Continuous Performance Test II, test Illinois de aptitudes psicolingüísticas, test de fluidez verbal, test de cubos de Knox, Trail Making Test, test de caras y test de los 5 dígitos. Se realizó el análisis estadístico con pruebas t de Student (muestras independientes) ajustado por Bonferroni (p < 0,002). Resultados. Aun dentro del rango normal promedio, hubo diferencias significativas entre grupos en el coeficiente intelectual total y de ejecución (tamaño del efecto pequeño y moderado, respectivamente). Los niños hipotiroideos presentaron, en el área de ejecución, significativamente menor desempeño en velocidad de procesamiento, tiempos de reacción, atención, flexibilidad cognitiva, visoconstrucción y memoria a largo plazo. No hubo diferencia significativa entre grupos en el área verbal. Conclusiones. Los niños hipotiroideos congénitos, sin discapacidad mental, presentaron defectos cognitivos leves, que deben ser tenidos en cuenta para su atención integral.

Introduction. Children with congenital hypothyroidism (CH) detected by newborn screening and adequately treated may have mild cognitive deficits. Objectives. To assess the intelligence quotient of children with CH and identify the presence of specific cognitive deficits. Population and methods. A group of 60 children with CH detected by newborn screening, who were aged 9-10 years old and received adequate treatment since their first month of life was selected and compared to a control group of 60 children without CH in the same age range. Inclusion criteria: children without concurrent diseases, who were attending school in a single shift, and whose parents had at least completed secondary education. The following tests were administered during individual interviews: the Wechsler Intelligence Scale for Children (third edition), the Rey complex figure test, the Woodcock-Muñoz revised test, the Conners Continuous Performance Test II, the Illinois Test of Psycholinguistic Abilities, the verbal fluency test, the Knox Cube Test, the Trail Making Test, the faces test, and the 5 digit test. The statistical analysis was done using Student's t tests (for independent samples) with Bonferroni's correction (p < 0.002). Results. Even within the normal average range, significant differences were observed between both groups in terms of total intelligence quotient and performance intelligence quotient (small and moderate effect sizes, respectively). In terms of performance, children with hypothyroidism had a significantly poorer performance in processing speed, reaction times, attention, cognitive flexibility, visuoconstruction, and long-term memory. No significant differences were found between both groups in the verbal area. Conclusions. Children with congenital hypothyroidism and without mental disability had mild cognitive deficits, which should be taken into account for a comprehensive patient care.

Carcinoma papilar de tiroides en un niño con hipotiroidismo congénito dishormonogénico: Reporte de un caso / Papillary thyroid carcinoma in a child with congenital dyshormonogenetic hypothyroidism: Case report

Introducción: El cáncer papilar de tiroides (CPT) es una enfermedad infrecuente en pediatría. La presentación de CPT asociado a hipotiroidismo congénito (HC) dishormonogénico es excepcional, y hay pocos casos reportados en la literatura. Objetivo: Presentar un caso de CPT en un paciente con HC dishormonogénico sin bocio, expuesto a radiación ionizante. Evaluar asociaciones entre estos factores y el desarrollo de CPT. Caso clínico: Paciente varón con antecedentes de HC dishormonogénico, por lo que recibió suplementación precoz con levotiroxina, logrando niveles normales de tirotropinas y hormonas tiroideas. Con antecedentes de cardiopatía congénita, fue sometido tratamiento intervencional con 10 cateterismos cardíacos y aproximadamente 26 radiografías de tórax con dosis pediátrica. A la edad de 6 años se encontró un nódulo tiroideo mediante ecografía. La citología por punción aspirativa con aguja fina confirmó alta sospecha de carcinoma tiroideo (Bethesda 5). El estudio de etapificación no mostró metástasis en el tórax ni en el cerebro. Fue sometido a tiroidectomía total y el análisis histopatológico reveló un microcarcinoma papilar de 0,5 cm intratiroideo, sin evidencia de diseminación. Conclusión: Las mutaciones genéticas propias de esta enfermedad y la exposición a radiación ionizante pudieran estar implicadas en el desarrollo de CPT. Es probable que haya vías fisiopatológicas comunes que requieren mayor investigación.

Introduction: Papillary thyroid carcinoma (PTC) is a rare childhood disease. The development of PTC in dyshormonogenetic congenital hypothyroidism (CH) is infrequent, with very few case reports in literature. Objective: To report a case of PTC in a boy with dyshormonogenetic CH without goitre and exposed to ionising radiation. To evaluate relationships between these factors and development of PTC. Case report: We present a boy with dyshormonogenetic CH since birth. Early hormonal substitution was initiated, with subsequent normal levels of thyrotropin and thyroid hormones. He has also congenital cardiomyopathy, exposed to interventional treatment with 10 heart catheterisations, and approximately 26 chest X-rays at paediatric doses. A thyroid nodule was found in thyroid echography at the age of 6 years old. Fine needle aspiration biopsy confirmed high probability of thyroid carcinoma (Bethesda 5). The pre-surgical thorax and cerebral scan showed no evidence of metastasis. The patient underwent total thyroidectomy. Pathological examination revealed a 0.5 cm papillary thyroid micro-carcinoma in the right lobe, with no evidence of dissemination. Conclusion: Genetic mutations and radiation exposure may play an important role in the development of PTC. There may be common pathways between dyshormonogenetic CH and thyroid carcinoma that need further investigation.

Oral and systemic manifestations of congenital hypothyroidism in children: a case report / Manifestaciones sistémicas y orales del hipotiroidismo congénito en niños: informe de caso

Hypothyroidism is the most common thyroid disorder. It may be congenital if the thyroid gland does not develop properly. A female predominance is characteristic. Hypothyroidism is the most common congenital pediatric disease and its first signs and early symptoms can be detected with neonatal screening. Some of the oral manifestations of hypothyroidism are known to be: glossitis, micrognathia, macroglossia, macroquelia, anterior open bite, enamel hypoplasia, delayed tooth eruption, and crowding. This paper briefly describes the systemic and oral characteristics of congenital hypothyroidism in a patient being treated at a dental practice. The patient had early childhood caries and delayed tooth eruption. There are no cases of craniosynostosis related to the primary pathology, which if left untreated, increases the cranial defect. Early diagnosis reduces the clinical manifestations of the disease. Delayed tooth eruption will become a growing problem if the patient does not receive timely treatment and monitoring...

El hipotiroidismo es el más común de los trastornos de la tiroides, puede ser congénito si la glándula tiroides no se desarrolla correctamente. La predominancia femenina es una característica. Los primeros signos y síntomas prematuros son detectados a la introducción del tamiz neonatal para hipotiroidismo, por ser la enfermedad congénita más frecuente en pediatría. Entre las manifestaciones orales del hipotiroidismo se observan: glositis, micrognatia, macroglosia, macroquelia, mordida abierta anterior, hipoplasia del esmalte, retardo en la erupción dental, y apiñamiento. Mediante revisión sucinta, se describen las características sistémicas y orales del hipotiroidismo congénito en una paciente que acude a la clínica dental, que dio lugar a caries de la infancia temprana y un retraso en la erupción dental. No existen casos de craneosinostosis relacionados con la patología base, la cual si no es tratada, incrementa el defecto craneal. Los pacientes prematuramente diagnosticados ven disminuidos las características clínicas. El retraso en la erupción se volverá un problema creciente si no se da seguimiento puntual...

Hipotiroidismo congénito, reporte de un caso / Congenital hypothyroidism, a case report

El hipotiroidismo congénito (HC) es la endocrinopatía más frecuente en el recién nacido, presenta una frecuencia de 1:3163 nacimientos. En Chile el tamizaje neonatal se realiza mediante un test de determinación de la tirotrofina (TSH)en papel filtro. CASO CLÍNICO: recién nacido de parto eutócico de3180 gr. y Apgar 9-10 a los 5 minutos; que ingresó al servicio de Neonatología al sexto día de vida por cuadro de ictericia asociado a hipoactividad y dificultad para alimentarse. Se diagnosticó hiperbilirrubinemia neonatal con sospecha de un cuadro infeccioso. Se trató con antibióticos y fototerapia intensiva disminuyendo la bilirrubinemia total de 28,57 a 14 mg/dl. Posterior al tratamiento recae en hipoactividad y con dificultad para alimentarse. Se solicitan exámenes de control, encontrándose bilirrubinemia mantenida de 18 mg/dl y hematocrito 35,7 por ciento, planteándose la posibilidad de una enfermedad metabólica, por lo que se realizaron exámenes que son enviados a Santiago para confirmación de patología metabólica; desde Santiago confirman una TSH venosa alterada de762 uIU/ml y una T4 total de 0.53 ug/dl, diagnosticando un hipotiroidismo congénito, por lo que se inició tratamiento con Levotiroxina15 ug/Kg/día. DISCUSIÓN: el hipotiroidismo congénito es una patología poco común de difícil diagnóstico, pero fácilmente detectable tamizaje neonatal midiendo TSH. En Chile, la estrategia de toma de este examen en los tiempos especificados según la categoría del recién nacido, facilita la prevención de complicaciones. En cambio cuando el tamizaje es retrasado, sólo queda la sospecha de esta entidad patológica...

Congenital hypothyroidism (CH) is the most common endocrinopathy newborn, and occurs in approximately1:3163 births. In Chile the newborn screening test is performed by a determination of thyrotropin (TSH) on filter paper. CASE REPORT: Newborn by eutocic delivery of 3180 gr. and 9-10 Apgar at 5 minutes; was admitted to the neonatology unit at six day of life because of jaundice associated with hypoactivity and poor feeding. Neonatal hyperbilirubinemia with suspected infectious condition was diagnosed and treated with antibiotics and intensive phototherapy decreasing total bilirubin 28.57 to14 mg/dl. Although treatment, the patient remains hypoactive and with poor feeding. Screening tests showed a persistent billirubin of 18mg/dl and hematocrit 35.7 percent, raising the possibility of a metabolic disease. Test were performed and sent to Santiago for confirmation, and congenital hypothyroidism was confirmed with and elevated serum TSH 762 uIU/ml and low T40.53 ug/dl, treatment with levothyroxine 15 ug/kg/day was started. DISCUSSION: Congenital hypothyroidism is a rare disease difficult to diagnose, but easily detected by neonatal screening of TSH measurement. In Chile the strategy of taking this exam at specific times according newborn categorization, facilitates the prevention of complications. However, when the screening is delayed, we can only suspect this pathological entity...

Natal teeth in an infant with congenital hypothyroidism.

Teeth erupting at birth are referred to as natal teeth. It is a common and benign finding in the neonatal period. However, they may be associated with genetic syndromes like Ellis Van Creveld syndrome and Hallermann-Streiff syndrome. We report here a case of natal teeth in an infant with congenital hypothyroidism.

Displasia fibrosa monostótica em paciente com hipotireoidismo congênito / Monostic Fibrous Dysplasia in a patiente with Congenital Hypothyroidism

Displasia fibrosa óssea é uma doença que pode comprometer um ou vários ossos do esqueleto. Ocorre com maior frequência nas três primeiras décadas de vida, sem predileção por sexo. Apresenta uma etiopatogenia controversa, desde distúrbios de desenvolvimento, problemas endócrinos a mutações genéticas. O diagnóstico é baseado em características clínicas, exames de imagem, exames laboratorial e histopatológico. O diagnóstico diferencial é feito principalmente com fibroma ossificante. Cirurgias reconstrutivas, curetagens,e medicamentos bifosfonados são à base do tratamento. Este artigo relata um caso de um paciente portador de hipotireoidismo congênito que apresenta displasia fibrosa óssea na mandíbula.

Fibrous dysplasia of bone is a disease which can involve only one or several bones of the skeleton. It occurs more frequently in the first three decades of life and has no sex predilection. It shows a controversy etiopathogeny ranging from development disorders, endocrine problems to gene mutations. The diagnosticis based on clinical features, imaging studies, lab tests, and anatomopathologic analyses. The differential diagnosis is made mainly using ossifying fibroma. The reconstructive surgeries, curettage, and bisphosphonate drugs are the basis of the treatment. This article reports a case of a patient who has congenital hypothyroidism that presents fibrous dysplasia of bone of the jaw.

Hipotireoidismo congênito: perfil clínico dos recém-nascidos identificados pelo Programa de Triagem Neonatal de Minas Gerais / Congenital hypothyroidism: the clinical profile of affected newborns identified by the Newborn Screening Program of the State of Minas Gerais, Brazil

OBJETIVO: Avaliar o perfil clínico de recém-nascidos com hipotireoidismo congênito identificados pelo Programa Estadual de Triagem Neonatal de Minas Gerais entre 2000 e 2006. MÉTODOS: A frequência das manifestações clínicas de hipotireoidismo congênito foi analisada em relação aos níveis de hormônio estimulante da tireoide T4L (determinados por quimioluminescência, valores de referência de 0,3 a 5,0 µUI/mL e 0,8 a 1,8 ng/dL, respectivamente) e idades ao diagnóstico e tratamento. Estudou-se 443 crianças, sendo 55,8 por cento do sexo feminino e 95 por cento delas com menos 60 dias de vida. RESULTADOS: Os sinais clínicos mais prevalentes foram: hérnia umbilical (51 por cento), fontanela anterior ampla (50,3 por cento) e fontanela posterior aberta (47,2 por cento). Hipotonia, macroglossia e sucção débil foram os sinais mais associados com a gravidade bioquímica da doença. Em 32,1 por cento das crianças houve atraso na idade óssea ao diagnóstico. As medianas de TSH e T4L séricos foram 120 µUI/mL e 0,62 ng/dL, respectivamente. A mediana da idade de início de tratamento foi de 28 dias. CONCLUSÃO: Existem sinais clínicos precoces que sugerem o diagnóstico de hipotireoidismo congênito. Portanto, diante de uma criança com esses sinais, devem ser avaliados TSH e T4L séricos para confirmar ou excluir a doença, independentemente do resultado do teste de triagem. A idade de início de tratamento ainda foi elevada, mas o programa vem adotando estratégias para redução da mesma.

OBJECTIVE: To evaluate the clinical profile of newborns with congenital hypothyroidism identified by the Newborn Screening Program of the State of Minas Gerais, Brazil, between 2000 and 2006. METHODS: Analysis of factors involved in this profile, including: TSH and FT4 levels (determined by chemiluminescence, with limits of normality set at 0.3-5.0 µUI/mL and 0.8-1.8 ng/dL, respectively), age at diagnosis and age at treatment. The study sample consisted of 443 children, 55.8 percent were female and 95 percent were seen before completing 60 days of life. RESULTS: The most prevalent clinical signals were: umbilical hernia (51 percent), enlarged anterior fontanel (50.3 percent), and open posterior fontanel (47.2 percent). Hypotonia, macroglossia and feeding difficulties were the clinical signs most frequently associated with the biochemical severity of the disease. A delay in bone age was present in 32.1 percent of the children at diagnosis. The median of serum TSH and FT4 was 120 µUI/mL and 0.62 ng/dL, respectively. The median age at start of treatment was 28 days. CONCLUSION: There are some early clinical signs that suggest a diagnosis of congenital hypothyroidism. Therefore, when presented with a child exhibiting these signs, serum TSH and FT4 should be assayed in order to confirm or rule out the disease, irrespective of the result of screening. Age at start of treatment remains high, but strategies are being implemented to reduce it.

Articulos del cono sur- Argentina: programa de pesquisa neonatal de hipotiroidismo congénito de la provincia de Buenos Aires/1, 377. 455 nilos evaluados en diea años de experiencia / Articles in the Southern Cone-Argentina: neonatal screening program for congenital hypothyroidism in the province of Buenos Aires / Niles evaluated 1377.455 IDEA years of experience

En 1995 se implementó en la provincia de Buenos Aires el programa de pesquisa de hipotiroidismo congénito para su diagnóstico y tratamiento precoz. El objetivo de este trabajo fue analizar los registros durante el periodo 2000-2004 y compararlos con los del periodo previo (1995-1999).

Fraser syndrome with partial anomalous pulmonary venous connection.

Fraser syndrome is characterized by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. We report a case of a two day old neonate who presented with features suggestive of the diagnosis of Fraser syndrome. This child also had partial anomalous pulmonary venous connection and congenital hypo-thyroidism.

PHACES syndrome with congenital hypothyroidism.

The acronym PHACE syndrome stands for Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities, Sternal clefting and/or a supraumbilical raphe. We report a 20 day old neonate who presented with a large facial hemangioma and Dandy-Walker cyst. This case is unusual because the cyst was detected antenatally and there was associated congenital hypothyroidism, which has been described very rarely with this condition.