Resumo

CESPEDES, ME. GH Receptor Polymorphisms in Acromegalic Patients. Rev. argent. endocrinol. metab. [online]. 2015, vol.52, n.3, pp.163-169. ISSN 1851-3034.

The growth hormone receptor mediates the effects of GH. Several isoforms of this receptor, as a product of polymorphisms in the coding sequences of GHR gene, have been identified. The d3-GHR isoform lacks a 22-amino-acid sequence encoded by exon 3, and although its ligand binding capacity remains intact, its deletion would affect the functional properties of GHR, and could facilitate the activation of the GHR. It has been reported that 50 % of acromegalic patients have at least one d3 allele. The d3 allele has been shown to contribute to predict postoperative response presenting significantly lower levels of GH in contrast to fl-GHR (full-length), with similar levels of IGF-1. The absence of exon 3 was also associated with abgreater likelihood of failing to achieve normal IGF-I after both surgical and medical treatment. In carriers of d3-GHR, lower doses of PEG (Pegvisomant) were required; the mechanism of this increased sensitivity is unknown.These patients may also have a higher prevalence of acromegalic comorbidities. These studies demonstrate the importance of the GHR genotype, which may not only contribute to predict clinical outcome, but also help to identify the optimal therapy for each patient.

Palavras-chave : Acromegaly; Receptor of growth hormone; GHR polymorphisms; Isoforms of GHR.

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