The use of recombinant human growth hormone (rhGH) in LEOPARD syndrome (LS) is highly controversial due to concerns about potential induction of hypertrophic cardiomyopathy (HCM). Prospective safety data are scarce. A 7-year-old girl with genetically confirmed LS (PTPN11 c.1403C > T) and significant short stature, but normal cardiac structure, received rhGH after multidisciplinary review. After 12 months of therapy, height velocity increased from 4.8 to 11.0 cm/year. Serial echocardiograms showed stable, normal ventricular wall thickness (IVSd Z -score: +0.5 to +0.6; LVPWd Z-score: +0.4 to +0.5) with no signs of HCM. All metabolic parameters remained normal. This prospective case suggests that, under rigorous cardiac screening and close monitoring, short-term rhGH may be a feasible option to improve growth in selected LS patients without pre-existing HCM. It provides a practical management framework and highlights the need for long-term safety registries. • First prospective safety data of rhGH in LEOPARD syndrome without cardiomyopathy. • No cardiac remodeling after 12 months of rhGH in a genetically confirmed case. Provides a practical monitoring framework for clinicians. • Supports cautious rhGH use in selected patients with normal baseline hearts.
Xiaolin Li (Sun,) studied this question.