hrp0089p1-p174 | Growth & Syndromes P1 | ESPE2018

Identification of ADAMTS6 as a Novel Candidate Gene for Idiopathic Short Stature with Advanced Bone Maturation

Warman Diana M , Ramirez Pablo , Marino Roxana , Garrido Natalia Perez , Touzon Maria Sol , Pentreath Matias Pujana , Mattone Maria Celeste , Rivarola Marco , Belgorosky Alicia

Aggrecan (ACAN) is the major proteoglycan in the articular cartilage, critical for the structure and function of growth plate cartilage.Case Report: 11-year-old (y) boy admitted at 1.8 y of chronological age (CA), due to poor growth rate Height (H): 76 cm (−2.75 SDS). Initial physical examination: mild dysmorphic features and prepubertal external genitalia (two scrotal testes, 1 cc volume each). Neurologic maturation was normal. Initial bo...