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MeSH Review

Congenital Hypothyroidism

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Disease relevance of Congenital Hypothyroidism


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Chemical compound and disease context of Congenital Hypothyroidism


Biological context of Congenital Hypothyroidism


Anatomical context of Congenital Hypothyroidism


Gene context of Congenital Hypothyroidism


Analytical, diagnostic and therapeutic context of Congenital Hypothyroidism


  1. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Castanet, M., Park, S.M., Smith, A., Bost, M., Léger, J., Lyonnet, S., Pelet, A., Czernichow, P., Chatterjee, K., Polak, M. Hum. Mol. Genet. (2002) [Pubmed]
  2. Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. Szinnai, G., Kosugi, S., Derrien, C., Lucidarme, N., David, V., Czernichow, P., Polak, M. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  3. Should vitamin-mineral supplements be recommended for all women with childbearing potential? Keen, C.L., Zidenberg-Cherr, S. Am. J. Clin. Nutr. (1994) [Pubmed]
  4. The CHARGE association and athyreosis. Marín, J.F., García, B., Quintana, A., Barrio, R., Sordo, M.T., Lozano, C. J. Med. Genet. (1991) [Pubmed]
  5. Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. Pohlenz, J., Sadow, P.M., Koffler, T., Schönberger, W., Weiss, R.E., Refetoff, S. J. Pediatr. (2001) [Pubmed]
  6. Role of congenital hypothyroidism in hearing loss in children. François, M., Bonfils, P., Leger, J., Czernichow, P., Narcy, P. J. Pediatr. (1994) [Pubmed]
  7. Maternal hypothyroxinaemia during the first half of gestation in an iodine deficient area with endemic cretinism and related disorders. Vermiglio, F., Lo Presti, V.P., Scaffidi Argentina, G., Finocchiaro, M.D., Gullo, D., Squatrito, S., Trimarchi, F. Clin. Endocrinol. (Oxf) (1995) [Pubmed]
  8. The effects of congenital hypothyroidism using the hyt/hyt mouse on locomotor activity and learned behavior. Anthony, A., Adams, P.M., Stein, S.A. Hormones and behavior. (1993) [Pubmed]
  9. Congenital hypothyroidism alters the phosphorylation of ERK1/2 and p38MAPK in the hippocampus of neonatal rats. Calloni, G.W., Penno, C.A., Cordova, F.M., Trentin, A.G., Neto, V.M., Leal, R.B. Brain Res. Dev. Brain Res. (2005) [Pubmed]
  10. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Macchia, P.E., Lapi, P., Krude, H., Pirro, M.T., Missero, C., Chiovato, L., Souabni, A., Baserga, M., Tassi, V., Pinchera, A., Fenzi, G., Grüters, A., Busslinger, M., Di Lauro, R. Nat. Genet. (1998) [Pubmed]
  11. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Tatsumi, K., Miyai, K., Notomi, T., Kaibe, K., Amino, N., Mizuno, Y., Kohno, H. Nat. Genet. (1992) [Pubmed]
  12. Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. Vulsma, T., Gons, M.H., de Vijlder, J.J. N. Engl. J. Med. (1989) [Pubmed]
  13. Screening for congenital hypothyroidism. Results in the newborn population of New England. Mitchell, M.L., Larsen, P.R., Levy, H.L., Bennett, A.J., Madoff, M.A. JAMA (1978) [Pubmed]
  14. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. Krude, H., Schütz, B., Biebermann, H., von Moers, A., Schnabel, D., Neitzel, H., Tönnies, H., Weise, D., Lafferty, A., Schwarz, S., DeFelice, M., von Deimling, A., van Landeghem, F., DiLauro, R., Grüters, A. J. Clin. Invest. (2002) [Pubmed]
  15. Maternal thyroxine and congenital hypothyroidism. Larsen, P.R. N. Engl. J. Med. (1989) [Pubmed]
  16. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. Pohlenz, J., Rosenthal, I.M., Weiss, R.E., Jhiang, S.M., Burant, C., Refetoff, S. J. Clin. Invest. (1998) [Pubmed]
  17. Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. Bikker, H., Waelkens, J.J., Bravenboer, B., de Vijlder, J.J. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  18. Cord blood reverse T3 in congenital hypothyroidism. Klein, A.H., Foley, T.P., Bernard, B., Ho, R.S., Fisher, D.A. J. Clin. Endocrinol. Metab. (1978) [Pubmed]
  19. Treatment of ovine cretinism in utero with 3,5-dimethyl-3'-isopropyl-L-thyronine. Bachrach, L.K., Kudlow, J.E., Silverberg, J.D., Kent, G., Burrow, G.N. Endocrinology (1982) [Pubmed]
  20. Auditory brainstem response audiometry in congenitally hypothyroid children under early replacement therapy. Hébert, R., Laureau, E., Vanasse, M., Richard, J.E., Morissette, J., Glorieux, J., Desjardins, M., Letarte, J., Dussault, J.H. Pediatr. Res. (1986) [Pubmed]
  21. Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. Ahlbom, B.D., Yaqoob, M., Larsson, A., Ilicki, A., Annerén, G., Wadelius, C. Hum. Genet. (1997) [Pubmed]
  22. Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Baas, F., Bikker, H., van Ommen, G.J., de Vijlder, J.J. Hum. Genet. (1984) [Pubmed]
  23. Effect of long-term L-thyroxine treatment on bone mineral density in young adults with congenital hypothyroidism. Salerno, M., Lettiero, T., Esposito-del Puente, A., Esposito, V., Capalbo, D., Carpinelli, A., Padula, S., del Puente, A. Eur. J. Endocrinol. (2004) [Pubmed]
  24. The ontogeny of [3H]5-hydroxytryptamine binding in the lamb: effects of in vivo thyroidectomy. Richards, G.E., Lakoski, J.M., Black, E.W., Halpern, R.E., Ball, K., Gluckman, P.D. Int. J. Dev. Neurosci. (1990) [Pubmed]
  25. Amniotic fluid 3,3',5'-triiodothyronine in the detection of congenital hypothyroidism. Landau, H., Sack, J., Frucht, H., Palti, Z., Hochner-Celnikier, D., Rosenmann, A. J. Clin. Endocrinol. Metab. (1980) [Pubmed]
  26. Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. Umeki, K., Kotani, T., Kawano, J., Suganuma, T., Yamamoto, I., Aratake, Y., Furujo, M., Ichiba, Y. Eur. J. Endocrinol. (2002) [Pubmed]
  27. Transient hypothyroidism or persistent hyperthyrotropinemia in neonates born to mothers with excessive iodine intake. Nishiyama, S., Mikeda, T., Okada, T., Nakamura, K., Kotani, T., Hishinuma, A. Thyroid (2004) [Pubmed]
  28. The effects of iodine deficiency on thyroid hormone deiodination. Obregon, M.J., Escobar del Rey, F., Morreale de Escobar, G. Thyroid (2005) [Pubmed]
  29. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. Biebermann, H., Schöneberg, T., Krude, H., Schultz, G., Gudermann, T., Grüters, A. J. Clin. Endocrinol. Metab. (1997) [Pubmed]
  30. A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. Bikker, H., den Hartog, M.T., Baas, F., Gons, M.H., Vulsma, T., de Vijlder, J.J. J. Clin. Endocrinol. Metab. (1994) [Pubmed]
  31. Expression of pituitary hormones in the Pax8-/- mouse model of congenital hypothyroidism. Friedrichsen, S., Christ, S., Heuer, H., Schäfer, M.K., Parlow, A.F., Visser, T.J., Bauer, K. Endocrinology (2004) [Pubmed]
  32. Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism. Baryshev, M., Sargsyan, E., Wallin, G., Lejnieks, A., Furudate, S., Hishinuma, A., Mkrtchian, S. J. Mol. Endocrinol. (2004) [Pubmed]
  33. Alterations of neonatal thyroid function. Grüters, A., Krude, H., Biebermann, H., Liesenkötter, K.P., Schöneberg, T., Gudermann, T. Acta paediatrica (Oslo, Norway : 1992). Supplement. (1999) [Pubmed]
  34. Early maternal hypothyroxinemia alters histogenesis and cerebral cortex cytoarchitecture of the progeny. Lavado-Autric, R., Ausó, E., García-Velasco, J.V., Arufe, M.d.e.l. .C., Escobar del Rey, F., Berbel, P., Morreale de Escobar, G. J. Clin. Invest. (2003) [Pubmed]
  35. Low growth hormone-binding protein in infants with congenital hypothyroidism. Cassio, A., Cacciari, E., Balsamo, A., Colli, C., Pasini, A., Salvioli, G.P., Lanari, M., de Iasio, R., Boschi, S., Pirazzoli, P. J. Clin. Endocrinol. Metab. (1998) [Pubmed]
  36. Radioimmunoassay of "free thyroxin" in dried blood spots on filter paper - preliminary observations on the effective differentiation of subjects with congenital hypothyroidism from those with subnormal thyroxin-binding globulin and normal subjects. Mizuta, H., Miyai, K., Ichihara, K., Amino, N., Harada, T., Nose, O., Tanizawa, O. Clin. Chem. (1982) [Pubmed]
  37. Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement. Fugazzola, L., Persani, L., Mannavola, D., Reschini, E., Vannucchi, G., Weber, G., Beck-Peccoz, P. Clin. Endocrinol. (Oxf) (2003) [Pubmed]
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