Relationship between the polymorphism of growth hormone receptor Ex3 and the efficacy of rhGH treatment in children with idiopathic short stature

LU Wen-Li, WANG Wei, WANG De-Fen, XIAO Yuan, HUANG Xiao-Ping, DONG Zhi-Lan

Chinese Journal of Contemporary Pediatrics ›› 2010, Vol. 12 ›› Issue (09) : 730-733.

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Chinese Journal of Contemporary Pediatrics ›› 2010, Vol. 12 ›› Issue (09) : 730-733.
CLINICAL RESEARCH

Relationship between the polymorphism of growth hormone receptor Ex3 and the efficacy of rhGH treatment in children with idiopathic short stature

  • LU Wen-Li, WANG Wei, WANG De-Fen, XIAO Yuan, HUANG Xiao-Ping, DONG Zhi-Lan
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Abstract

OBJECTIVE: To assess the influence of growth hormone receptor (GHR) Ex3 genotype on the short-term response to recombinant human growth hormone (rhGH) therapy in children with idiopathic short stature (ISS). METHODS: Thirty prepubertal children with ISS receiving rhGH treatment [0.116±0.02 IU/(kg/d)] were randomly recruited. The GHR Ex3 locus was genotyped using a PCR multiplex assay. The growth data including growth velocity, height SDS for chronological age (HtSDSCA), height SDS for bone age (HtSDSBA) and predict final height were compared in children with different GHR genotypes 6 months after rhGH treatment. RESULTS: After 6 months of rhGH treatment, the children with ISS carrying d3/d3 alleles showed a significantly higher increment in growth velocity than those carrying fl/fl alleles (6.3±1.6 cm/year vs 3.4±0.5 cm/year; P<0.05). CONCLUSIONS: The polymorphism in GHR Ex3 is associated with the responsiveness to rhGH treatment, showing that the growth velocity in ISS children with d3/d3 genotype is significantly higher than those with fl/fl genotype.[Chin J Contemp Pediatr, 2010, 12 (9):730-733]

Key words

Idiopathic short stature / Recombinant human growth hormone / Growth hormone receptor / Child

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LU Wen-Li, WANG Wei, WANG De-Fen, XIAO Yuan, HUANG Xiao-Ping, DONG Zhi-Lan. Relationship between the polymorphism of growth hormone receptor Ex3 and the efficacy of rhGH treatment in children with idiopathic short stature[J]. Chinese Journal of Contemporary Pediatrics. 2010, 12(09): 730-733

References

[1]国家体育总局群体司编. 2000年国民体质监测报告[M]. 北京:体育大学出版社, 2002: 105, 124.
[2]Pantel J, Grulich-Henn J, Bettendorf M, Strasburger CJ, Heinrich U, Amselem S. Heterozygous nonsense  mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform[J]. J Clin Endocrinol Metab, 2003, 88(4):1705-1710.
[3]Hintz RL, Attie KM, Baptista J, Roche A. Effect of growth hormone treatment on adult height of children with idiopathic short stature[J]. N Engl J Med, 1999, 340(7): 502-507.
[4]Bryant J, Baxter L, Cave C, Milne R. Recombinant growth hormone for idiopathic short stature in children and adolescents[J]. Cochrane Database Syst Rev, 2003: CD004440.
[5]Thomas FJ, McLeod HL, Watters JW. Pharmacogenomics: the influence of genomic variation on drug response[J]. Curr Top Med Chem, 2004, 4(13):1399-1409.
[6]Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougneresl P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone[J]. Nat Genet, 2004, 36(7):720-724.
[7]Binder G, Baur F, Schweizer Ranke MB. The d3-Growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestationalage children[J]. J Clin Endocrinol Metab, 2006, 91(2): 659-664.
[8]Alexander AL, Frederico G, Marchisotti LR, Luciani RC, Berenice BM, Ivo JP.  Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on firstyear growth response and final height in patients with severe GH deficiency[J]. J Clin Endocrinol Metab, 2006, 91(3):795-796.

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