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


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.

SUBMITTER: Benvenga S 

PROVIDER: S-EPMC6171088 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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

Benvenga Salvatore S   Klose Marianne M   Vita Roberto R   Feldt-Rasmussen Ulla U  

Journal of clinical & translational endocrinology 20180927


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 de  ...[more]

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