ESPE Abstracts

Introduction: Noonan syndrome-like syndrome with loose anagen hair (NSLH) is a RASopathy due to a missense mutation in the SHOCK2 gene. NSLH is distinguished by facial dysmorphisms, growth retardation, various neurocognitive impairment, and cardiac defects. Extremely short stature is frequently observed in patients with SHOC2 gene mutation. Treatment by growth hormone (GH) due to moderate GH deficiency or IGF-1 due to GH insensitivity may be insufficient. We r...