Effect of single nucleotide polymorphisms on CDK4 and Zn supplementation in children with growth hormone deficiency.

OBJECTIVE: Precision medicine is a personalized disease prevention and treatment program combining modern genetic technology, molecular imaging techniques, and biological information with patients' living environment and clinical data, for accurate classification and diagnosis of diseases.

CASE REPORT: Our study presents the case of a 7-year-old female patient with clinical manifestations of growth hormone (GH) deficiency. After treatment with recombinant human GH for 2 years, the patient showed a reduced growth rate. Then single nucleotide polymorphisms according to GHD was analyzed, and the 6009 site within cyclin-dependent kinase 4 gene showed a weak response to IGF-1 which was a downstream signal molecules of GH.

CONCLUSIONS: Based on these results, both Zn and GH were supplied to the patients, and the growth rate increased significantly. Precision medicine needs more studies on patients to make accurate treatment.