Vitamin D, its receptor gene polymorphism and the g rowth hormone/growth factor system in children and adolescents with endocrine pathology
pdf (Українська)

Keywords

vitamin D
vitamin D receptor gene polymorphism
growth hormone
insulin-like growth factor-1
ghrelin
children and adolescents
short stature
hypothalamic dysfunction
obesity
type 1 diabetes mellitus

How to Cite

Bolshova, O., Sprynchuk, N., Malinovska, T., Lukashuk, I., Kvachenyuk, D., Ryznychuk, M., Pakhomova, V., Vyshnevska, O., & Samson, O. (2025). Vitamin D, its receptor gene polymorphism and the g rowth hormone/growth factor system in children and adolescents with endocrine pathology. Endokrynologia, 30(1), 16-24. https://doi.org/10.31793/1680-1466.2025.30-1.16

Abstract

Abstract. Hypovitaminosis D was found in 90.44% of children with growth retardation, in 86.00% – with obesity associated with hypothalamic dysfunction, in 87.5% – with type 1 diabetes mellitus (T1DM). There is a close relationship between the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis and the content of vit. D and vitamin D-binding protein (VD-BP), which is confirmed by strong/medium correlations between these indicators. An inverse correlation was found between the content of ghrelin and VD-BP and a direct correlation with the basal level of GH, IGF-1. The risk of development is significantly increased: for growth hormone deficiency (GHD) in the presence of VDR gene polymorphisms BsmI G/A; TagI T/C; ApaI C/A; for idiopathic short stature – in the presence of allele A of the rs1544410 BsmI locus, allele C of the rs731236 TaqI
locus; for biologically inactive GH syndrome – in the presence of BsmI A/A and TaqI C/C polymorphisms; for Intrauterine growth retardation – in the presence of the pathological variant A/A of the BsmI polymorphism. The most significant changes in lipid fractions, leptin levels, VD-BP, and parathyroid hormone were observed in patients with stage III obesity against the background of the lowest content of 25(OH)D in the blood (p <0.05). Vit. D3 supplementation is accompanied by a tendency to improve glycemic control in 71.4% of children with T1DM.

Conclusions. The presence in most patients with short stature, T1DM, obesity on the background of hypothalamic dysfunction as a consequence of hypovitaminosis D, significant correlations between the GH/IGF-1 axis and vit. D and VD-BP determine the need to take into account the content of vit. D in the diagnosis, treatment, and monitoring of patients with certain endocrinopathies. The study of polymorphic variants TaqI T/C
(rs731236), BsmI G/A (rs1544410) and ApaIA/C (rs7975232) of the VDR gene allows us to assess the risk of short stature. Combination therapy (rGH + vitamin D) leads to increased efficacy of growthstimulating therapy.

https://doi.org/10.31793/1680-1466.2025.30-1.16
pdf (Українська)

References

Holick MF, Garabedian M. Vitamin D: photobiology, metabolism, mechanism of action, and clinical application. In: Favus MJ. (ed.) Primer on the metabolic bone diseases and disorders of mineral metabolism. DC: Americal Society for Bone and Mineral Research; 2006. p. 129-36.

Greulich WW, Pyle SI. Radiological atlas of skeletal development of the hand and wrist (second edition). USA: Pyle Stanford University Press; 1959. 272 p.

Tanner JM. Growth at adolescence (2nd ed.). Thomas: Springfield, Ill; 1962.

World Health Organization. WHO child growth standards: length/height-for-age, weight-for-age, weight-for-length, weight-for height and body mass index-for-age: methods and development. Genewa: WHO Press; 2017. 312 p.

Ranke MB. Diagnosis of growth hormone deficiency and growth hormone stimulation tests. In: Ranke MB. (ed.). Diagnostics of endocrine function in children and adolescents. Basel: S.Karger AG; 2003. p. 10728. doi: 10.1159/000073547.

Growth Hormone Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society. J Clin Endocrinol Metab. 2000 Nov;85(11):39903. doi: 10.1210/jcem.85.11.6984.

Ströhle A. Die aktuellen Empfehlungen des USamerikanischen Institute of Medicine (IOM) für die VitaminDZufuhr. Eine kritische

Würdigung [The updated recommendations of the US Institute of Medicine (IOM) on the intake of vitamin D. A critical appraisal. Med Monatsschr Pharm. 2011 Aug;34(8):2918. German.

Fletcher D, Faddy M. Confidence intervals for expected abundance of rare species. JABES. 2007; 12(3):315-24. doi: 10.1198/108571107X229322.

Ryznychuk M, Bolshova O. Involvement of the vitamin D receptor gene in children with growth hormone deficiency. In: 26th European Congress of Endocrinology, 11-14 May 2024, Stockholm, Sweden. Endocrine Abstracts 99 EP26. Bioscientifica; 2024. doi: 10.1530/ endoabs.99.EP26.

Ryznychuk M, Bolshova O, Kvachenyuk D, Sprinchuk N, Malinovska T. Genetic features of children with idiopathic short stature. Wiad Lek. 2023;76(2):320-5. doi: 10.36740/Wied.Lek202302111.

Bolshova OV, Ryznychuk MA, Kvachenyuk DA. Аnalysis of the vitamin D receptor BSMI gene polymorphism in children with growth hormone deficiency. Wiad Lek. 2021;74(3 cz 1):498-503. doi: 10.36740/Wied.Lek202103121.

Большова ОВ, Ризничук МО, Кваченюк ДА. Аналіз поліморфного локусу rs1544410 BSMI гена рецептора вітаміну DVDR у дітей із соматотропною недостатністю. In: The driving force of science and trends in its development: Collection of scientific papers «Scientia» with Proceedings of the II International Scientific and Theoretical Conference (Vol. 2), 20 August 2021, Coventry, United Kingdom. Ukraine: Gulyaeva V.M.; 2021. p. 87-9 (Bolshova OV, Ryznychuk MA, Kvachenyuk DA. Analysis of the polymorphic locus rs1544410 BSMI of the vitamin D receptor gene DVDR in children with somatotropic deficiency. In: The driving force of science and trends in its development: Collection of scientific papers «Scientia» with Proceedings of the II International Scientific and Theoretical Conference (Vol. 2), 20 August 2021, Coventry, United Kingdom. Ukraine: Gulyaeva V.M.; 2021. p. 87-9. Ukrainian). doi: 10.36074/scientia-20.08.2021.

Bolshova OV, Ryznychuk MO, Kvachenyuk DA. TaqI polymorphism of the vitamin D receptor gene in children with growth hormone deficiency. International Journal of Endocrinology (Ukraine). 2023;19(4):249-53. doi: 10.22141/2224-0721.19.4.2023.1280.

Ризничук МО, Большова ОВ. Аналіз поліморфізму Taql гена VDR рецептора вітаміну D у дітей із соматотропною недостатністю. Ендокринологія. 2024;29(1):25-30 (Ryznychuk MO, Bolshova OV. Analysis of vitamin D receptor gene polymorphism Taql in children with growth hormone deficiency. Endokrynologia. 2024;29(1):25-30. Ukrainian). doi: 10.31793/1680-1466.2024.29-1.25

Ryznychuk M. Association of vitamin D receptor Apa l rs7975232 polymorphism with growth hormone deficiency in children. In: Abstracts from the 57th European Society of Human Genetics (ESHG) conference: e-posters, 1-4 June 2024, Berlin, Germany. Eur J Hum Genet. 2024;32(Suppl 2):975-6. doi: 10.1038/s41431-024-01733-5.

Ризничук МО, Кваченюк ДА. Поліморфізм +1245G/T гена COL1A1 у дітей із дефіцитом гормону росту. Фізіол. журн. 2024;70(5):42-8 (Ryznychuk MO, Kvachenyuk DA. Polymorphism +1245G/T of the COL1A1 gene in children with growth hormone deficiency. Fiziol Zh. 2024;70(5):42-8. Ukrainian). doi: 10.15407/fz70.05.042.

Downloads

Download data is not yet available.