Thyroid dyshormonogenesis

Definition:

Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects in the synthesis of thyroid hormones.

References:

[1]. H Fujiwara, et al. Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. Nat Genet. 1997 Jun;16(2):124-5. [Content Brief]

[2]. Ilaria Zamproni, et al. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 2008 Feb;93(2):605-10. [Content Brief]

[3]. José C Moreno, et al. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med. 2002 Jul 11;347(2):95-102. [Content Brief]

[4]. José C Moreno, et al. Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med. 2008 Apr 24;358(17):1811-8. [Content Brief]

[5]. M J Abramowicz, et al. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest. 1992 Oct;90(4):1200-4. [Content Brief]

[6]. Magdalena Avbelj, et al. High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. Eur J Endocrinol. 2007 May;156(5):511-9. [Content Brief]

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

[8]. T Ieiri, et al. A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest. 1991 Dec;88(6):1901-5. [Content Brief]

[9]. Tao Yang, et al. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet. 2007 Jun;80(6):1055-63. [Content Brief]

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