hrp0095p1-106 | GH and IGFs | ESPE2022

Shox Deficiency in Children with Short Stature: Response To Recombinant Growth Hormone Therapy (rGH)

Valiani Margherita , Tyutyusheva Nina , Randazzo Emioli , Bertelloni Silvano , Michelucci Angela , Adelaide Caligo Maria , Peroni Diego

Background:Short stature may be due to various pathological conditions or may be idiopathic. SHOX (Short Stature Homeobox on X chromosome) gene is involved in the regulation of skeletal growth and is a main cause of short stature on monogenic basis. The frequency of this condition in children with idiopathic short stature (ISS) was reported to range from 2 to 17%. The phenotypic spectrum is heterogeneous, varying from Léri-Weill dyschondrosteosis (LWD) ...