Homozygosity of the d3-growth hormone receptor polymorphism is associated with a high total effect of GH on growth and a low BMI in girls with Turner syndrome
Open accessAbstract
OBJECTIVE: The protein polymorphism of the GH receptor caused by genomic deletion of exon 3 (d3) has been linked to the magnitude of the first-year-growth response to GH in girls with Turner syndrome. Here, we studied the long-term effect of GH therapy in Turner syndrome in correlation to this polymorphism. DESIGN: The study was mainly retrospective. PATIENTS: The women with Turner syndrome (n = 48) had been treated with GH over the past 18 years at our hospital. The mean GH dose used was 38 microg/kg/day (SD 8). MEASUREMENTS: The GHR-exon 3 locus was genotyped using a PCR multiplex assay for both alleles and a second PCR assay for the full length (fl) allele only. RESULTS: The fl/fl, d3/fl and d3/d3 genotypes were present in 24, 17 and 7 women, respectively. Mean Turner height standard deviation scores (SDS) at start of therapy was 0.09 (1.09), mean age was 9.1 years (3). Age, height, target height, age at start of puberty and mode of GH therapy were not different between the groups. Total gain in height (difference between final adult height and initial height) was significantly higher in the d3/d3 group [+1.84 SDS (0.31)] than in the fl/fl group [+0.72 SDS (0.92)] and in the d3/fl group [+0.83 SDS (0.93)] (P < 0.001). A covariance analysis confirmed the effect of the polymorphism. Mean BMI SDS at the start and end of therapy was low in the d3/d3 group and significantly lower than in the fl/fl group (P < 0.04). CONCLUSIONS: Our data suggest that homozygosity for the d3-GHR polymorphism is associated with a unique GH responsiveness and a weight regulation towards a lower BMI in girls with Turner syndrome.
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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 [131]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
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- Authors
- Binder, G., Trebar, B., Baur, F., Schweizer, R., & Ranke, M. B.
- Affiliations
- University Children's Hospital Tübingen (DE)
- Corresponding author
- Binder, Gerhard
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2007-09-29
- Volume
- 68
- Issue
- 4
- Pages
- 567-572
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- OpenAlex
- W1987671381
- Cited by
- 48
- References
- 23
- Citations by year
- 2024: 2 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 1 · 2018: 2 · 2017: 2 · 2015: 5 · 2014: 1 · 2013: 4 · 2012: 5
- FWCI
- 3.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Pfizer
- 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 receptor, exon 3 deletion, homozygosity, growth hormone therapy, adult height, body mass index, body weight regulation
- MeSH terms
- Child, Female, Genotype, Homozygote, Humans, Polymorphism, Genetic, Receptors, Somatotropin, Recombinant Proteins, Retrospective Studies, Turner Syndrome, Body Mass Index, Treatment Outcome, Human Growth Hormone, Hormone Replacement Therapy
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