Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential for early brain development. The neonatal screening can avoid the poor prognosis of hypothyroidism.
Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE
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Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
Tylki-Szymanska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Rozdzynska-Swiatkowska A, Hoischen A, Chrzanowska KH
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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor alpha gene (THRA).
Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E
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Mutations in IRS4 are associated with central hypothyroidism.
