Congenital nongoitrous hypothyroidism (CHNG)

Definition:

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.

References:

[1]. Anna Tylki-Szymańska, et al. Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). J Med Genet. 2015 May;52(5):312-6. [Content Brief]

[2]. Annette Grüters, et al. Update on the management of congenital hypothyroidism. Horm Res. 2007;68 Suppl 5:107-11. [Content Brief]

[3]. C Peters, et al. DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives. Eur J Endocrinol. 2018 Dec 1;179(6):R297-R317. [Content Brief]

[4]. Charlotte A Heinen, et al. Mutations in IRS4 are associated with central hypothyroidism. J Med Genet. 2018 Oct;55(10):693-700. [Content Brief]

[5]. Marta García, et al. Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X. J Endocr Soc. 2018 Nov 23;3(1):119-128. [Content Brief]

[6]. Monica Dentice, et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab. 2006 Apr;91(4):1428-33. [Content Brief]

[7]. P E Macchia, et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May;19(1):83-6. [Content Brief]

[8]. R Collu, et al. A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. J Clin Endocrinol Metab. 1997 May;82(5):1561-5. [Content Brief]

[9]. S M Park, et al. Genetics of congenital hypothyroidism. J Med Genet. 2005 May;42(5):379-89. [Content Brief]

[10]. T Sunthornthepvarakul, et al. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995 Jan 19;332(3):155-60. [Content Brief]

[11]. Y Hayashizaki, et al. Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. EMBO J. 1989 Aug;8(8):2291-6. [Content Brief]

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