Review
Advances in the pathogenesis and treatment of short stature in Noonan syndrome
Cao Qing, Wu Su, Liu Qianqi
Published 2023-07-26
Cite as Int J Pediatr, 2023, 50(7): 456-459. DOI: 10.3760/cma.j.issn.1673-4408.2023.07.007
Abstract
Noonan syndrome(NS)is an inherited disease involving multiple systems.The main clinical manifestations include distinctive facial features, short stature, heart defects, developmental delay and chest deformity.Short stature, reported in up to 70% of NS patients, is one of the main reasons NS patients seek medical treatment.The pathogenesis is associated with the up-regulation of RAS-mitogen activated protein kinase(RAS-MAPK)signal pathway.Further study is needed for some further specific mechanisms.Recombinant human growth hormone(rhGH)therapy has been approved for NS patients with short stature and has achieved a good therapeutic effect.However, the knowledge of drug dosage, influencing factors, long-term efficacy and risk of rhGH treatment is still insufficient.This paper reviews the pathogenesis and treatment of short stature in NS, providing help for the treatment and management of the disease.
Key words:
Noonan syndrome; Short stature; Pathogenesis; Recombinant human growth hormone treatment
Contributor Information
Cao Qing
Department of Child Health Care, Children′s Hospital of Nanjing Medical University, Nanjing 210008, China
Wu Su
Department of Endocrinology, Children′s Hospital of Nanjing Medical University, Nanjing 210008, China
Liu Qianqi
Department of Child Health Care, Children′s Hospital of Nanjing Medical University, Nanjing 210008, China
