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Review
. 2018 Sep 27:14:5-11.
doi: 10.1016/j.jcte.2018.09.004. eCollection 2018 Dec.

Less known aspects of central hypothyroidism: Part 2 - Congenital etiologies

Salvatore Benvenga  1   2   3 , Marianne Klose  4 , Roberto Vita  1 , Ulla Feldt-Rasmussen  4
Affiliations
Review

Less known aspects of central hypothyroidism: Part 2 - Congenital etiologies

Salvatore Benvenga et al. J Clin Transl Endocrinol. .

Abstract

Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in which it is frequently associated with other pituitary hormone deficiencies. The aim of this paper is to provide an updated review on the frequency of congenital CH, which is <1:50,000, and on its etiology, disregarding CH caused by other genetic defects, such as mutations of transcription factors involved in pituitary organogenesis or mutations of the genes encoding TRH or TRH receptor.

Keywords: ACTH, adrenocorticotropin hormone; ALGS, arteriohepatic dysplasia; CH, central hypothyroidism; Central hypothyroidism; Congenital hypothyroidism; DWS, Dandy-Walker syndrome; FT3, free triiodothyronine; FT4, free thyroxine; GH, growth hormone; HCG, human chorionic gonadotropin; Hypopituitarism; IGDF1, immunogobulin superfamily member 1; PC1/3, proprotein convertase 1/3; PWS, Prader-Willi syndrome; ROHHAD, rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation; SCD, sickle cell anemia; SMMCIS, solitary median maxillary central incisor syndrome; SOD, septo-optic dysplasia; SWS, Sturge-Weber syndrome; TRH, TSH-releasing hormone; TSH, thyrotropin; TT3, total triiodothyronine; TT4, total thyroxine; Thyrotropin deficiency.

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