Congenital nongoitrous hypothyroidism (CHNG)

[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]