Endocrine Abstracts

JOINT1548

Objective: The aim of this study was to investigate the clinical and genetic characteristics of three cases of short stature caused by the GHSR gene mutation.

Methods: A retrospective analysis was conducted on the clinical data and genetic test results of three cases of short stature caused by the GHSR gene mutation. The patients were followed up at the Department of Endocrinology Genetics and Metabolism of the Children’s Hospital of Soochow University. A literature search (search terms included “GHSR” and “short stature”) for recently published studies was completed using the China National Knowledge Infrastructure database, WanFang database, PubMed, and the Human Gene Mutation Database.ResultsThe peak value of growth hormone provocation test in two cases was >10 ng/ml, and the height of two patients was improved after recombinant human growth hormone therapy. One untreated patient was followed up until lifelong height was reached, and the patient remained with a short stature.

Conclusion: The peak value of growth hormone provocation test in patients with GHSR gene variants may be >10 ng/ml, these patients may have precocious puberty, and short stature caused by the GHSR gene mutation can be treated with growth hormone.