Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort.

ABSTRACT: The variety of genes associated with Noonan syndrome spectrum disorders (NSSD) is expanding, and real-life experience with its management is increasing; however, phenotypic differences among genotypes remain poorly defined. We aimed to assess clinical characteristics and response to growth hormone (GH) therapy in a genetically confirmed, single-country multicentre NSSD cohort. We included 101 patients with NSSD (56 males) from six centres: 76 with (likely) pathogenic PTPN11 variants, 7 with SOS1 variants, and 18 with other gene variations. All completed at least one year of GH therapy; 23 reached final height. Parental heights were below average (fathers: - 0.33 SDS [- 1.19; 0.39], p < 0.01; mothers: - 0.68 SDS [- 1.47; 0.12], p < 0.001; medians [IQR]). SOS1-NS patients were born earlier (

SUBMITTER: Jirova B 

PROVIDER: S-EPMC12830400 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature