GHR and VDR genes do not contribute to the growth hormone (GH) response in GH deficient and Turner syndrome patients
Abstract
We have prospectively assessed the influence of GHR and VDR gene polymorphisms on the response to rhGH therapy in Venezuelan children with growth hormone deficiency (GHD, n=28) and Turner syndrome (TS, n=25). Clinical data during rhGH treatment were compared in GH and TS patients with different genotypes. PCR amplifications were performed to obtain the genotype frequencies of the polymorphisms. Clinical data at the start of treatment and rhGH doses were indistinguishable among patients with GHD or TS with different GHR or VDR genotypes. After the first two years of rhGH treatment, clinical data in both GHD and TS patients were not different according GHR or VDR genotypes. In addition, there was no significant difference among the subjects when both these genotypes were combined. Gene polymorphisms in low penetrance genes do not contribute to the rhGH therapy response in patients with GHD and TS.
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Results from studies of girls with TS are contradictory regarding the effect of d3 alleles on growth response.
“However, the results from studies of girls with TS are contradictory with some finding a significant effect on height velocity, total gain in height and adult height in girls with TS carrying one or two d3 alleles.130-132 Other studies did not find an effect.133-135”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [133]
Cites
Bakker, E., Frane, J. W., Anhalt, H., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1581 · Cited by 159 · see citing works
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Self-citationBraz, A. F., Costalonga, E. F., Montenegro, L. R., Trarbach, E. B., Antonini, S. R. R., Malaquias, A. C., Ramos, E. S., Mendonca, B. B., Arnhold, I. J. P., & Jorge, A. A. L. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-2521 · Cited by 21 · see citing works
- Authors
- Álvarez-Nava, F., Marcano, H., Pardo, T., Paoli, M., Gunczler, P., Soto, M., Villalobos, J., & Lanes, R.
- Affiliations
- Universidad del Zulia (VE)
- Universidad de Los Andes (VE)
- Hospital Clínico Universitario de Caracas (VE)
- Venue
- Journal of Pediatric Endocrinology and Metabolism
- Publisher
- Walter de Gruyter GmbH
- Published
- 2010-01
- Volume
- 23
- Issue
- 8
- Pages
- 773-82
- ISSN
- 0334-018X (ISSN-L)
- 2191-0251
- OpenAlex
- W2325373927
- Cited by
- 11
- References
- 1
- Citations by year
- 2024: 1 · 2023: 1 · 2021: 1 · 2017: 1 · 2015: 2 · 2014: 1 · 2013: 2 · 2012: 1
- FWCI
- 0.97
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Pediatric Endocrinology and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
- Keywords
- growth hormone deficiency, Turner syndrome, growth hormone therapy response, VDR polymorphisms, gene-gene interaction, low-penetrance genes
- MeSH terms
- Carrier Proteins, Child, Child, Preschool, DNA Mutational Analysis, Dwarfism, Pituitary, Female, Genotype, Humans, Male, Polymorphism, Genetic, Prospective Studies, Recombinant Proteins, Turner Syndrome, Treatment Outcome, Receptors, Calcitriol, Human Growth Hormone
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