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Article

Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.

Reviews in endocrine & metabolic disorders - 1 Mar 2021

Aguiar-Oliveira Manuel H, Salvatori Roberto

Abstract excerpt

Since 1994, we have been studying an extended kindred with 105 subjects (over 8 generations) residing in Itabaianinha County, in the Brazilian state of Sergipe, who have severe isolated GH deficiency (IGHD) due to a homozygous inactivating mutation (c.57 + 1G > A) in the GH releasing hormone (GHRH) receptor (GHRHR) gene. Most of these individuals have never received GH replacement therapy. They have low GH, and...

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PMID: 32935264
DOI: 10.1007/s11154-020-09591-4

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