Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant

Marchisotti, Frederico G.; Jorge, Alexander; Montenegro, Luciana Ribeiro; Berger, Karina; Carvalho, Luciani R.; Mendonca, Berenice B.; Arnhold, Ivo Jorge Prado

doi:10.1016/j.ghir.2008.10.001

Cited by 17 publications

(9 citation statements)

References 50 publications

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“…In most previous studies on the effect of the GHR exon 3 polymorphism on growth response in GHD patients, no association was reported, which is in agreement with our results [17,18,33,34,35]. However in a number of studies, including the study by Dos Santos et al [9], response to GH therapy was found to be more marked in patients carrying d3 homozygously or heterozygously.…”

Section: Discussionsupporting

confidence: 92%

“…The distribution of GHR exon 3 isoforms in GHD in our study (28.4% fl/fl, 46.8% fl/d3 and 24.8% d3/d3) showed that the frequency of d3/d3 is higher and that of fl/fl is slightly lower than the distribution in most of the European studies which report a frequency of 43–55% in fl/fl, 36–47% in fl/d3 and 3–11% in d3/d3 [16,17,18,33,34,35,36]. …”

Section: Discussionsupporting

confidence: 42%

“…In most of the studies, even in those showing an association between the exon 3 deletion and growth response, no significant correlation was found between IGF-1, IGFBP-3 and genotype groups [10,17,33,37,38]. Serum IGF-1 levels may not reflect the overall IGF bioavailability and may not include the autocrine and paracrine effects [40].…”

Section: Discussionmentioning

confidence: 99%

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The Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism and Response to Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome: A Multicenter Study

Baş

Darendelıler²,

Aycan³

et al. 2012

Horm Res Paediatr

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Background/Aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner’s syndrome (TS) and the distribution of GHR exon 3 isoforms. Materials and Methods: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). Results: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Δheight velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. Conclusion: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 42%

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The Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism and Response to Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome: A Multicenter Study

Baş

Darendelıler²,

Aycan³

et al. 2012

Horm Res Paediatr

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“…Some studies demonstrated that GHD patients carrying the d3-GHR allele had a better response to substitutive GH therapy than patients with the normal allele [71][72][73], while other studies did not. This may be due to confounding factors such as small sample size, differences in experimental design and severity of GHD [74][75][76][77][78]. In fact, more recent results from the PREDICT Study demonstrated that response to rhGH depends on the interaction between GHD severity and d3-GHR carriage [79].…”

Section: Variability In the Response To Rhgh Therapymentioning

confidence: 99%

Growth Hormone Deficiency: Diagnosis and Therapy in Children

Boiocchi¹,

Meazza²

2016

Restricted Growth - Clinical, Genetic and Molecular Aspects

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Short stature has been defined as a height below the 2 standard deviation for age, sex and ethnicity. Growth hormone deficiency (GHD) represents a condition characterized by reduced GH secretion, isolated or associated with other pituitary hormone deficiencies. In a child with short stature and growth deceleration, after the exclusion of other causes of growth failure, the diagnosis of GHD has to be confirmed by measurement of GH secretion after at least two stimulation tests. Patients with GHD should be treated with rhGH as soon as possible, to obtain normalization of growth and normal final height. The catch-up growth in response to rhGH therapy is maximal during the first years and could be affected by many variables, such as birth-weight, age and height at start of treatment and of puberty, and duration of treatment. Overall, rhGH is believed to be safe and significant side-effects in children are very rare, including benign intracranial hypertension, hyperglycaemia, arthralgia and myalgia. Patients with childhood onset GHD are usually retested in late adolescence to confirm the GHD persistence and to continue of GH therapy. In conclusion, the present chapter provides useful and updated information about the diagnosis, treatment and follow-up of children with GHD.

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“…It has also been shown that d3-GHR carriers have a higher serum IGF-I SD score (SDS) increase during an IGF-I generation test, indicating that carriers of the d3-allele are more responsive to GH [11]. However, other studies have not been able to demonstrate an effect of the GHR d3/fl genotype on the responsiveness to GH [12][13][14][15][16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Rapid and high throughput genotyping of the growth hormone receptor exon 3 deleted/full-length polymorphism using a tagSNP

Glad

Johannsson

Carlsson

et al. 2010

Growth Hormone & IGF Research

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Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant

Cited by 17 publications

References 50 publications

The Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism and Response to Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome: A Multicenter Study

The Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism and Response to Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome: A Multicenter Study

Growth Hormone Deficiency: Diagnosis and Therapy in Children

Rapid and high throughput genotyping of the growth hormone receptor exon 3 deleted/full-length polymorphism using a tagSNP

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