MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.

@article{AguiarOliveira2017MECHANISMSIE,
  title={MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.},
  author={Manuel Herm{\'i}nio de Aguiar-Oliveira and Anita Herm{\'i}nia Oliveira Souza and Carla R. P. Oliveira and Viviane Aparecida Costa Campos and Luiz Alves Oliveira-Neto and Roberto Salvatori},
  journal={European journal of endocrinology},
  year={2017},
  volume={177 2},
  pages={R85-R97}
}
Twenty years ago, we described kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in northeast Brazil, carrying a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3 and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical… CONTINUE READING
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