The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome
Abstract
Objective Recombinant human growth hormone (GH) can achieve final adult height gain in girls with Turner syndrome (TS), but its efficacy varies widely across individuals. The exon 3-deleted polymorphism of growth hormone receptor (d3-GHR) has been reported to be associated with responsiveness to GH therapy. The short-term growth response of Turner patients to GH therapy was analysed according to their GHR-exon 3 polymorphism genotype. Design and patients This was a retrospective study of 175 TS patients. Auxological and endocrine parameters were measured, and the GHR-exon 3 genotype was analysed. Allelic frequencies of GHR-exon 3 genotype were compared between patients with TS and control individuals. GH had been administered to 147 patients, 115 of which remained pre-pubertal after the first follow-up year. Changes in height standard deviation score (SDS), height velocity (HV), body mass index (BMI), IGF-1 and IGF binding protein-3 (IGFBP-3) concentrations were compared between these patients, grouped according to genotype, after the first follow-up year. Results There was no difference in GHR-exon 3 genotype frequency between the TS and control groups of Koreans. According to the GHR-exon 3 genotype (fl/fl group vs. d3/fl and d3/d3 group), HV gain and height SDS gain did not differ significantly at the first year of GH therapy. Moreover, changes in IGF-1, IGFBP-3 concentration and BMI showed no significant difference between the groups with and without d3-GHR after 1 year o…
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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 [135]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Ko, J. M., Kim, J., Cheon, C., Kim, D., Lee, D., Cheong, W. Y., Kim, E. Y., Park, M. J., & Yoo, H.
- Affiliations
- Ajou University Medical Center (KR)
- Asan Medical Center (KR)
- Pusan National University (KR)
- Yonsei University (KR)
- Jeonbuk National University (KR)
- Inje University (KR)
- Kwangju Christian Hospital (KR)
- Corresponding author
- Yoo, Han‐Wook
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2010-01-19
- Volume
- 72
- Issue
- 2
- Pages
- 196-202
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- OpenAlex
- W2060274093
- Cited by
- 22
- References
- 32
- Citations by year
- 2024: 2 · 2023: 1 · 2020: 2 · 2018: 1 · 2017: 2 · 2015: 3 · 2013: 1 · 2012: 3
- FWCI
- 2.43
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- AJOU Open Repository (Ajou University) (submittedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Keywords
- Turner syndrome, growth hormone therapy, growth hormone receptor gene, genotypes, growth response, Korean patients, insulin-like growth factor I, IGFBP-3, height velocity, body mass index
- MeSH terms
- Adolescent, Adult, Alleles, Child, Exons, Female, Genotype, Humans, Karyotyping, Polymorphism, Genetic, Receptors, Somatotropin, Turner Syndrome, Human Growth Hormone, Asian People, Young Adult
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