Tombari Sarra, Amri Yessine, Hasni Yosra, Hadj Fredj Sondess, Salem Yesmine, Ferchichi Salima, Essaddam Leila, Messaoud Taieb, Dabboubi Rym
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.
Heliyon. 2024 Jul 20;10(14):e34947. doi: 10.1016/j.heliyon.2024.e34947. eCollection 2024 Jul 30.
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.
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.
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 I polymorphism and GHD. Furthermore, significant difference was observed between the I genotypes and PTH (p = 0,019) and ALP (p = 0,035). 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).
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.
生长激素缺乏症（GHD）是一种罕见疾病，其特征是生长激素分泌完全或部分减少。维生素D缺乏症很常见，可能与多种疾病相关。然而，GHD与维生素D缺乏之间的关联尚未得到广泛研究。本研究旨在分析与维生素D状态相关的维生素D受体（VDR）基因多态性，以确保更好地治疗GHD患者。
在突尼斯儿童医院与苏塞的法哈特·哈谢德医院合作开展了一项病例对照研究，纳入了GHD患者和健康受试者。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对VDR基因多态性进行基因分析。使用Haploview软件检查单倍型，同时使用SPSS和R编程语言进行统计分析。
我们的研究显示，患者与健康受试者之间的维生素D（p = 0.049）和钙浓度存在显著差异，GHD组较低（p = 0.018）。对五种多态性的等位基因和基因型频率进行比较，结果表明I多态性与GHD之间存在关联。此外，I基因型与甲状旁腺激素（PTH，p = 0.019）和碱性磷酸酶（ALP，p = 0.035）之间存在显著差异。I基因型与磷（p = 0.021）相关。此外，一种单倍型CTAGT在患者与健康受试者之间存在显著差异（p = 0.002）。
我们的研究结果表明，即使接受重组人生长激素（rhGH）治疗，维生素D缺乏症在GHD患者中也很常见。这凸显了治疗期间补充维生素D的至关重要性。
