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Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly

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Abstract

Background

The association of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms with clinical presentation, biochemical measurements and response to therapies in acromegaly have been suggested.

Objective

To evaluate the presence of these polymorphisms in acromegaly and their influence on clinical and laboratorial characteristics of patients at diagnosis and after treatment in a large cohort of acromegalic patients.

Patients and methods

This is a cross-sectional study developed in a single tertiary reference center. Clinical data were obtained from the medical records of 186 acromegalic patients (116 women, age range 21–88 years). GH and IGF1 levels and GHR-exon 3 and -202 A/C IGFBP3 polymorphisms were evaluated in the same hospital.

Results

At diagnosis, serum GH concentrations were lower in patients with GHR-d3 genotype than those with GHR-fl, whereas an association of lower IGFBP3 levels with d3 allele was observed only after neurosurgical or medical treatments. However, these associations were not confirmed in posterior statistical analysis.

Conclusion

Our results suggest that GHR-exon 3 and -202 A/C IGFBP3 polymorphisms did not show any consistent association on clinical and laboratorial features of acromegalic patients even after treatment.

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Acknowledgments

We thanks to Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) for the financial support. This study was funded by Fundação de Amparo à Pesquisa do Estado de São Paulo—FAPESP (Grant Number 2010/11718-1).

Conflict of interest

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Neuroendocrine Unit, Hospital das Clinicas, University of São Paulo Medical School, Av Dr Eneas de Carvalho Aguiar, 155, PAMB, 8 andar, São Paulo, SP, CEP: 05403-010, Brazil

    Raquel S. Jallad, Felipe H. Duarte & Marcello D. Bronstein

  2. Laboratory of Cellular and Molecular Endocrinology - LIM25, University of São Paulo Medical School, Av Dr Arnaldo, 455, 4 andar, sala 4345, São Paulo, CEP: 01246-903, Brazil

    Ericka B. Trarbach & Alexander A. L. Jorge

Authors
  1. Raquel S. Jallad
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  2. Ericka B. Trarbach
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  3. Felipe H. Duarte
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  4. Alexander A. L. Jorge
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  5. Marcello D. Bronstein
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Correspondence to Raquel S. Jallad.

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Jallad, R.S., Trarbach, E.B., Duarte, F.H. et al. Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly. Pituitary 18, 666–673 (2015). https://doi.org/10.1007/s11102-014-0629-y

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