Vitamin D status and VDR gene polymorphisms in patients with growth hormone deficiency: A case control Tunisian study.

Autor:	Tombari S; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia., Amri Y; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia.; University of Jendouba, Higher Institute of Applied Studies in Humanity Le Kef, Department of Educational Sciences, Kef, Tunisia., Hasni Y; Department of Endocrinology, Farhat Hached Hospital, Sousse, Tunisia., Hadj Fredj S; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia., Salem Y; Biochemistry Laboratory, Farhat Hached Hospital, Sousse, Tunisia., Ferchichi S; Biochemistry Laboratory, Farhat Hached Hospital, Sousse, Tunisia., Essaddam L; Department of Pediatrics, Bechir Hamza Children's Hospital, Tunis, Tunisia., Messaoud T; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia., Dabboubi R; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia.
Jazyk:	angličtina
Zdroj:	Heliyon [Heliyon] 2024 Jul 20; Vol. 10 (14), pp. e34947. Date of Electronic Publication: 2024 Jul 20 (Print Publication: 2024).
DOI:	10.1016/j.heliyon.2024.e34947
Abstrakt:	Introduction: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be associated with several pathologies. However, the association between GHD and vitamin D deficiency has not been extensively studied. This study aimed to analyse VDR gene polymorphisms related to vitamin D status to ensure better care for patients with GHD. Material and Methods: A case-control study was conducted at the Children's Hospital of Tunis in collaboration with the Farhat Hached's Hospital of Sousse, including patients with GHD and healthy subjects. Genetic analysis of the VDR gene polymorphisms was performed using PCR-RFLP technique. Haplotypes were examined with Haploview software, while statistical analyses were carried out using SPSS and R programming language. Results: Our study revealed significant differences in vitamin D (p = 0, 049) and calcium concentrations between patients and healthy subjects, which were lower in the GHD group (p = 0,018). A comparison of allelic and genotypic frequencies of the five polymorphisms indicated an association between the Fok I polymorphism and GHD. Furthermore, significant difference was observed between the Apa I genotypes and PTH (p = 0,019) and ALP (p = 0,035). Fok I genotypes were associated with phosphorus (p = 0,021). Additionally, One haplotype, CTAGT, exhibited a significant difference between the patients and healthy subjects (p = 0,002). Conclusion: Our study findings indicate that hypovitaminosis D is common among patients with GHD, even when undergoing treatment with rhGH. This underscores the critical importance of vitamin D supplementation during treatment. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2024 The Authors.)
Databáze:	MEDLINE
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