hrp0097fc11.2 | GH and IGFs | ESPE2023
Renes Judith
, Reedijk Ardine
, Losekoot Monique
, Kant Sarina
, van der Steen Manouk
, van der Kaay Danielle
, Hokken-Koelega Anita
, van Duyvenvoorde Hermine
, de Bruin Christiaan
Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...