ISSN 1662-4009 (online)

ey0021.4-6 | Important for Clinical Practice | ESPEYB21

4.6. Clinical characteristics of pathogenic ACAN variants and 3-year response to growth hormone treatment: real-world data

JS Renes , AMJ Reedijk , M Losekoot , SG Kant , M Van der Steen , DCM Van der Kaay , ACS Hokken-Koelega , HA Van Duyvenvoorde , C de Bruin

Brief Summary: This study describes the clinical characteristics of pathogenic variants in the ACAN gene and the response to rhGH treatment over three years in children with a heterozygous ACAN variant. The results indicate that rhGH therapy may be considered to reduce the height deficit in these patients, particularly in prepubertal children with ACAN deficiency.Aggrecan is the major proteoglycan of the cartilage growth plate. Homozygo...