hrp0095p2-197 | Growth and Syndromes | ESPE2022

Characterization of A Patient with "Rasopathies" Type of Noonan Syndrome Due to Mutation of PTPN11 in A Pediatric Endocrine Consultation

Mejia de Beldjenna Liliana , Mejia Valentina

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder that involving multiple organ systems, with an incidence of 1:1,000 to 1:2,500.The clinical features as short stature, dysmorphic facial features, congenital heart defects most commonly pulmonary valve stenosis, typical chest, cryptorchidism. The PTPN11 gene is located on the long arm of chromosome 12q24.1 and encodes for the non-receptor protein tyrosine phosphatase SHP-2 (SHP2), generating ...

hrp0092p3-186 | Multisystem Endocrine Disorders | ESPE2019

Variable Expressivity in Three Generation from a Colombian Family with Multiple Endocrine Neoplasia with Mutation c.482G>A (p.Gly161Asp) in the Gene MEN1 not Described in Colombia

Mejia de Beldjenna Liliana , Diaz Lorena , Vanegas Sara , Perafan Lina , Pachajoa Harry

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...