RESUMEN
OBJECTIVE: The aim: To investigate the clinical and genetic characteristics of children with idiopathic short stature, taking into account the polymorphism of the vitamin D receptor (VDR) BsmI gene. PATIENTS AND METHODS: Materials and methods: Eighteen children diagnosed with of idiopathic short stature who were treated at the State Institution «V.P. Komisarenko Institute of Endocrinology and Metabolism of the National Academy of Medical Sciences of Ukraine¼ were examined. The following values were taken into account: the patient's sex and age, anthropometric data, vitamin D level in the blood (excluding summer months of patient recruitment), bone age, basal growth hormone (GH) level and its level after stimulation tests (clonidine, insulin), IGF-1 levels, blood levels of total and ionized calcium and VDR gene polymorphism. RESULTS: Results: The A allele carriers of the polymorphic locus BsmI (rs1544410) of the VDR gene are significantly associated with the risk of developing idiopathic short stature OR = 4.47 (95% CI 2.11-9.48; p <0.05). The risk of idiopathic short stature is significantly higher OR = 9.33 (95% CI 3.09-28.16; p <0.05) in children with the presence of the G/A genotype. Vitamin D deficiency (43.83 ± 6.47 nmol/l) was found in children with the BsmI polymorphic variant G/G VDR, and vitamin D insufficiency was found in children with BsmI polymorphic variants G/A and A/A VDR (58.14 ± 20.05 and 51.58 ± 22.84 nmol/l, respectively). CONCLUSION: Conclusions: The data obtained regarding the polymorphic locus BsmI (rs1544410) of the of VDR gene cannot exclude it's the involvement in the pathogenesis of idiopathic short stature.