M A Siano, R Pivonello, M Salerno, M Falco, C Mauro, D De Brasi, A Klain, S Sestito, A De Luca, V Pinna, C Simeoli, D Concolino, Ciro Gabriele Mainolfi, T Mannarino, P Strisciuglio, M Tartaglia, D Melis
BACKGROUND AND OBJECTIVES: Endocrine complications have been described in patients affected by RASopathies but no systematic assessment has been reported. In this study, we investigate the prevalence of endocrine disorders in a consecutive unselected cohort of patients with RASopathies. STUDY DESIGN: 72 patients with a genetically confirmed RASopathy (Noonan syndrome [NS], N=53; 29 LEOPARD syndrome [LS], N=2; cardiofaciocutaneous syndrome [CFCS], N=14; subjects showing co-occurring pathogenic variants in PTPN11 and NF1 , N=3) and an age- and sex-matched healthy controls were included in the study...
2022: Frontiers in Endocrinology