AACE2021-A-1102: Growth Hormone Deficiency in Patient with De Novo Mutation in SHOC2 Causing Noonan Syndrome-Like Disorder with Loose Anagen Hair, and Castleman Syndrome

Abstract

Clinical manifestations of Noonan syndrome (NS) include short stature, distinctive facial features, webbed/wide neck, cryptorchidism, and congenital heart disease, notably pulmonic stenosis. NS is also recognised to predispose to malignancy – particularly hematological disease. Almost half of all NS cases are due to PTPN11 mutation. Other common mutations include SOS1 and RAF. Several rare mutations and NS subtypes are recognised. All of the known genes encode proteins within the RAS-Mitogen Activated Protein Kinase pathway.