Attention. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please. Home» Hipotiroidismo El hipotiroidismo significa que la glándula tiroides no es capaz de producir suficiente hormona tiroidea . Hipotiroidismo Congénito. Incidencia de hipotiroidismo congénito en 14 regiones sanitarias del Paraguay. Article (PDF Available) in Revista chilena de pediatría 82(4) · August.

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Ann Thorac Surg, 58pp. Pediatrics, 78pp. Without treatment CH results in severe intellectual deficit and short stature.

J Clin Endocrinol Metab, 84pp. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.

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Bone mineral density and metabolism in children with congenital hypothyroidism after prolonged L-thyroxine therapy. Eur J Endocrinol,pp. The prognosis of infants started on treatment early is excellent, hipogiroidismo IQs similar to sibling or classmate controls.

Diagnostic methods In countries with newborn screening programs with either a primary thyroxine T4 -follow-up TSH or primary TSH testhipotiroidism are diagnosed after detection by screening tests finding an elevated serum TSH level and low T4 or free T4 level.

Thyroid, 7pp. Inactivating mutations in the gene for thyroid oxidase 2 THOX2 and congenital hypothyroidism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency.


Orphanet: Hipotiroidismo congenito

Li XC, et al. Other diagnostic tests thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology and separate transient from permanent cases. J Clin Endocrinol Metab, 77pp. Mutations in TITF-1 are associated with benign hereditary chorea.

Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter. Iodine an hypothyroidism in neonates with congenital hearth disease. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest,pp. Neonatal screening for congenital hypothyroidism: Una TSH anormalmente alta significa hipotiroidismo: Peripheral CH results from defects in thyroid hormone transport, metabolism, or action as in Allan-Herndon-Dudley syndrome or as a result of peripheral congennito to thyroid hormones see these terms.

Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Povidone-iodine in umbilical cord care interferes with neonatal screening for hypothyroidism.

J Pediatr,pp. Clinical and molecular analysis of three Mexican families with Pendred’s syndrome. Endocr J, 45pp.

Health care resources for this disease Expert centres Diagnostic tests Patient organisations 35 Orphan drug s 4. The sodium iodide symporter: Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hipoplasia of the thyroid gland.

For all other hipotieoidismo, please send your remarks via contact us. Deletion of thyroid transcription factor-1 in an infant with neonatal thyroid dysfunction and respiratory failure.

Morreale de Escobar, J. Am J Human Genet, 66pp. Definitive CH is no longer considered a simple embryo disorder or malformation and is currently of great interest in molecular biology to determine the network of genes required for normal thyroid function.


The cause of thyroid dysgenesis remains unknown in the vast majority of cases. Nature Gen, 18pp. Mutations encoding thyroid transcription factor-1 TTF-1 are not a frequent cause of congenital hypothyroidism CH with thyroid dysgenesis.

Si continua navegando, consideramos que acepta su uso. Hipotidoidismo search option s Alphabetical list. Clin Endocrinol Metab, 44pp. Are you a health professional able to prescribe or dispense drugs? Escape from the acute Wolff. Coyle B, et al. If a familial form of CH is discovered, this will guide genetic counseling. Disturbed co-development of thyroid gland and cervical arteries as a new model for thyroid dysgenesis [resumen].

Clin Endocrinol Oxf51pp. Mutations of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.

Fisiopatología del hipotiroidismo congénito primario | Endocrinología y Nutrición

An Esp Pediatr, 30pp. Cloning and characterization oh the thyroid iodide transporter. Horm Res, 62pp. A variant of iodotyrosine-desahalogenase deficiency. Bone mineral density of hipotirodiismo and adolescents with congenital hypothyroidism. CH can be divided into permanent with primary, secondary, or peripheral causes or transient forms see these terms.