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Analysis of growth hormone receptor gene expression in tall and short stature children

  • Sara Pagani , Giorgio Radetti , Cristina Meazza and Mauro Bozzola EMAIL logo
Published/Copyright: March 16, 2017
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 30 Issue 4

Abstract:

Background:

The majority of children who present for evaluation of tall stature fall under the diagnosis of constitutional tall stature (CTS).

Methods:

To investigate mechanisms of tall stature, we evaluated serum IGF-I values and the expression of the GHR gene in the peripheral blood cells of 46 subjects with normal height, 38 with tall stature and 30 healthy children with short stature.

Results:

Our results showed significantly lower IGF-I levels in children with short stature (−0.57±0.18 SDS) compared to control children (0.056±0.19 SDS; p<0.0001) and to subjects with tall stature (0.594±0.17; p=0.00067). Furthermore, we found significantly higher GHR gene expression levels in tall children (321.84±90.04 agGHR/5×105agGAPDH) compared with other groups of subjects (short children: 30.13±7.5 agGHR/5×105agGAPDH, p<0.0001; controls: 86.81ag±19.5 GHR/5×105agGAPDH, p=0.035). The GHR gene expression level in short children was significantly lower compared with control subjects (p=0.0068).

Conclusions:

Significantly higher GHR gene expression levels in tall subjects suggests a sensitization of the GHR-IGF system leading to overgrowth in CTS.

Keywords:: growth hormone (GH); growth hormone-binding protein (GHBP); GHR gene; growth; IGF-I; tall children
Corresponding author: Mauro Bozzola, MD, Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS San Matteo, Piazzale Golgi, 2, 27100 Pavia, Italy, Phone: +390382501270, Fax: +390382502876

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2016-9-8
Accepted: 2017-1-30
Published Online: 2017-3-16
Published in Print: 2017-4-1

©2017 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

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  2. Editorial
  3. Pediatric endocrinology is pediatrics is public health
  4. Original Articles
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  6. Vitamin D supplementation, the metabolic syndrome and oxidative stress in obese children
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  8. Cross-sectional analysis of universal vitamin D supplementation in former East Germany during the first year of life
  9. Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia
  10. Changes of thyroid hormonal status in patients receiving ketogenic diet due to intractable epilepsy
  11. Leptin and adiponectin levels in discordant dichorionic twins at 72 hours of age-associations with anthropometric parameters and insulin resistance
  12. Analysis of growth hormone receptor gene expression in tall and short stature children
  13. Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals
  14. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
  15. Associations between obesity, adverse behavioral patterns and cardiovascular risk factors among adolescent inhabitants of a Greek island
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  17. Case Reports
  18. The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency
  19. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB
  20. Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation
  21. Cushing’s syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma
  22. Letters to the Editor
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https://doi.org/10.1515/jpem-2016-0355
Keywords for this article
growth hormone (GH); growth hormone-binding protein (GHBP); GHR gene; growth; IGF-I; tall children

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Pediatric endocrinology is pediatrics is public health
  4. Original Articles
  5. Total body fat, abdominal fat, body fat distribution and surrogate markers for health related to adipocyte fatty acid-binding protein (FABP4) in children
  6. Vitamin D supplementation, the metabolic syndrome and oxidative stress in obese children
  7. Vitamin D status in Egyptian children with type 1 diabetes and the role of vitamin D replacement in glycemic control
  8. Cross-sectional analysis of universal vitamin D supplementation in former East Germany during the first year of life
  9. Ethnicity and incidence of congenital hypothyroidism in the capital of Macedonia
  10. Changes of thyroid hormonal status in patients receiving ketogenic diet due to intractable epilepsy
  11. Leptin and adiponectin levels in discordant dichorionic twins at 72 hours of age-associations with anthropometric parameters and insulin resistance
  12. Analysis of growth hormone receptor gene expression in tall and short stature children
  13. Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals
  14. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
  15. Associations between obesity, adverse behavioral patterns and cardiovascular risk factors among adolescent inhabitants of a Greek island
  16. Increase of body mass index (BMI) from 1.5 to 3 years of age augments the degree of insulin resistance corresponding to BMI at 12 years of age
  17. Case Reports
  18. The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency
  19. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB
  20. Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation
  21. Cushing’s syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma
  22. Letters to the Editor
  23. Growth-hormone deficiency in mitochondrial disorders
  24. Response to Growth hormone deficiency in mitochondrial disorders
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