Objectives To emphasize the significance of genetic mutations in idiopathic infantile hypercalcemia and the potential therapeutic effectiveness of zoledronic acid in managing hypercalcemia attributed to gene mutations. Case presentation A 1-year-old female infant was referred to our hospital. The patient developed hypercalcemia despite no vitamin D prophylaxis or intake. In the acute phase, conventional calcium-lowering treatments showed limited efficacy, while the administration of zoledronic acid demonstrated effectiveness in controlling hypercalcemia. Subsequently the patient maintained normal calcium levels via a low-calcium diet and avoiding vitamin D intake. Genetic testing confirmed a homozygous mutation (c.476G>C) in the CYP24A1 gene. Conclusions Family screening and genetic counseling are crucial for early detection and prevention of hypercalcemia. This case emphasizes the importance of genetic mutations in disease development and the potential therapeutic efficacy of zoledronic acid in managing hypercalcemia attributed to gene mutations.
Purpose The use of growth hormone in children with idiopathic short stature is still controversial. We aimed to assess the benefits and downsides of growth hormone in these children at a psychological level. Methods The children and adolescents with short stature were recruited from the Second Affiliated Hospital of Wenzhou Medical University. They were divided into two groups: the growth hormone deficit group(GHD-G), and the idiopathic short stature group(ISS-G). The Symptom Checklist-90 scale (SCL-90) was used to evaluate the psychological situation. Results The results showed that the average score of GHD-G was lower than that of ISS-G, but there was no significant difference (P > 0.05). Linear regression analysis showed that the higher the growth hormone stimulation peak(GHSP), the higher the score of the SCL-90(β = 0.027, 95%CI = 0.007 to 0.047, P value = 0.00962). The results didn’t change after adjusting the factors like age, sex, and laboratory testing( β = 0.023, 95%CI = 0.003 to 0.043, P value = 0.02652). Further, when LH was more than 0.2U/L, the score of the SCL increased as the GHSP increased (β = 0.0566,95%CI = 0.0295 to 0.0837, P value = 0.0001); But when LH was less than 0.2U/L, there was not a clear relationship has been found(β=-0.0022,95%CI=-0.0268 to 0.0225, P value = 0.8631). Conclusions There is no evident detrimental effect of growth hormone deficit on mental health in children with short stature. Instead, increasing GHSP may hurt mental health, particularly in children before puberty. Children with idiopathic short stature who have limited height improvement following growth hormone treatment should carefully consider whether to continue using the hormone.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.