EVERLAYNY FIOROT COSTALONGA
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bookPart Farmacogenética do tratamento com GH(2012) COSTALONGA, Everlayny Fiorot; JORGE, Alexander Augusto de Lima- Catch-up growth in patients with congenital or acquired growth hormone deficiency after GH replacement: Clinical features and hypothalamic-pituitary imaging(2012) CARVALHO, L. R.; ARNHOLD, I. J. P.; MENDONCA, B. B.; COSTALONGA, E. F.; OTTO, A. P.; LEITE, C. Da Costa; LUCATO, L. T.; PERUCHI, M. M.Hypothalamic and pituitary disorders usually impair statural growth. These disorders may be either congenital or acquired with differences in clinical presentation. Growth failure is mainly related to growth hormone deficiency (GHD) that can be accompanied by other pituitary hormone deficiencies. The onset of clinical features may be insidious and unnoticed for years or decades. Therefore, it is important to periodically assess auxologic data such as height, growth velocity, bone maturation and evaluate hormonal levels related to hypothalamic-pituitary axis in these patients. Magnetic resonance imaging (MRI) greatly improved the study of central nervous system (CNS) disorders including the hypothalamic-pituitary region. Currently, it is an essential tool in the definition of the etiology of GHD. It can detect tumors that may require surgical intervention, and also provide insights into other causes of GHD. Catch up growth of congenital disorders is essentially dependent on hormone replacement. Even with an initial diagnosis of IGHD, attention should be given to the risk of the development of multiple pituitary hormone deficiencies. In addition to the hormonal deficiencies due to the acquired disorder themselves; their treatment (surgery, irradiation, chemotherapy) often leads to combined pituitary deficits. Growth responsiveness to rhGH has safety aspects of treatment which deserve additional discussion. © Springer Science+Business Media, LLC 2012. All rights reserved.
bookPart Deficiência isolada de GH por deleção no gene GH1(2012) FRANçA, Marcela M.; OLIVEIRA, Suely B. de; COSTALONGA, Everlayny Fiorot; ARNHOLD, Ivo Jorge Prado- The Interactive Effect of GHR-Exon 3 and -202 A/C IGFBP3 Polymorphisms on rhGH Responsiveness and Treatment Outcomes in Patients with Turner Syndrome(2012) BRAZ, Adriana F.; COSTALONGA, Everlayny F.; MONTENEGRO, Luciana R.; TRARBACH, Ericka B.; ANTONINI, Sonir R. R.; MALAQUIAS, Alexsandra C.; RAMOS, Ester S.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L.Context: There is great interindividual variability in the response to recombinant human (rh) GH therapy in patients with Turner syndrome (TS). Ascertaining genetic factors can improve the accuracy of growth response predictions. Objective: The objective of the study was to assess the individual and combined influence of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on the short-and long-term outcomes of rhGH therapy in patients with TS. Design and Patients: GHR-exon 3 and -202 A/C IGFBP3 genotyping (rs2854744) was correlated with height data of 112 patients with TS who remained prepubertal during the first year of rhGH therapy and 65 patients who reached adult height after 5 +/- 2.5 yr of rhGH treatment. Main Outcome Measures: First-year growth velocity and adult height were measured. Results: Patients carrying at least one GHR-d3 or -202 A-IGFBP3 allele presented higher mean first-year growth velocity and achieved taller adult heights than those homozygous for GHR-fl or -202 C-IGFBP3 alleles, respectively. The combined analysis of GHR-exon 3 and -202 A/C IGFBP3 genotypes showed a clear nonadditive epistatic influence on adult height of patients with TS treated with rhGH (GHR-exon 3 alone, R-2 = 0.27; -202 A/C IGFBP3, R-2 = 0.24; the combined genotypes, R-2 = 0.37 at multiple linear regression). Together with clinical factors, these genotypes accounted for 61% of the variability in adult height of patients with TS after rhGH therapy. Conclusion: Homozygosity for the GHR-exon3 full-length allele and/or the -202C-IGFBP3 allele are associated with less favorable short-and long-term growth outcomes after rhGH treatment in patients with TS.
- Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and-202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency(2012) COSTALONGA, E. F.; ANTONINI, S. R. R.; GUERRA-JUNIOR, G.; COLETTA, R. R. D.; FRANCA, M. M.; BRAZ, A. F.; MENDONCA, B. B.; ARNHOLD, I. J. P.; JORGE, A. A. L.Insulin-like growth factor type 1 (IGF1) is a mediator of growth hormone (GH) action, and therefore, IGF1 is a candidate gene for recombinant human GH (rhGH) pharmacogenetics. Lower serum IGF1 levels were found in adults homozygous for 19 cytosine-adenosine (CA) repeats in the IGF1 promoter. The aim of this study was to evaluate the influence of (CA)n IGF1 polymorphism, alone or in combination with GH receptor (GHR)-exon 3 and -202 A/C insulin-like growth factor binding protein-3 (IGFBP3) polymorphisms, on the growth response to rhGH therapy in GH-deficient (GHD) patients. Eighty-four severe GHD patients were genotyped for (CA) n IGF1, -202 A/C IGFBP3 and GHR-exon 3 polymorphisms. Multiple linear regressions were performed to estimate the effect of each genotype, after adjustment for other influential factors. We assessed the influence of genotypes on the first year growth velocity (1st y GV) (n = 84) and adult height standard deviation score (SDS) adjusted for target-height SDS (AH-TH SDS) after rhGH therapy (n = 37). Homozygosity for the IGF1 19CA repeat allele was negatively correlated with 1st y GV (P = 0.03) and AH-TH SDS (P = 0.002) in multiple linear regression analysis. In conjunction with clinical factors, IGF1 and IGFBP3 genotypes explain 29% of the 1st y GV variability, whereas IGF1 and GHR polymorphisms explain 59% of final height-target-height SDS variability. We conclude that homozygosity for IGF1 (CA) 19 allele is associated with less favorable short-and long-term growth outcomes after rhGH treatment in patients with severe GHD. Furthermore, this polymorphism exhibits a non-additive interaction with -202 A/C IGFBP3 genotype on the 1st y GV and with GHR-exon 3 genotype on adult height. The Pharmacogenomics Journal (2012) 12, 439-445; doi:10.1038/tpj.2011.13; published online 5 April 2011
conferenceObject PARTIAL RECOVERY OF PITUITARY FUNCTION AFTER LINEAR GROWTH IN PATIENTS WITH CONGENITAL COMBINED PITUITARY HORMONE DEFICIENCY (CPHD)(2017) MADEIRA, Joao L. O.; BISCOTTO, Isabela P.; CORREA, Fernanda A.; OTTO, Aline P.; COSTALONGA, Everlayny F.; FRANCA, Marcela M.; JORGE, Alexander; ARNHOLD, Ivo J.; MENDONCA, Berenice B.; CARVALHO, Luciani R.