Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep881 | Reproductive and Developmental Endocrinology | ECE2022

Noonan Syndrome, Dandy-Walker variant and delayed puberty- a rare association

Lavrador Mariana , Fadiga Lu cia , Ferreira Mafalda Martins , Barros Lui sa , Paiva Isabel

Introduction: The Dandy-Walker complex (DW) comprises a rare intracranial malformation of the posterior fossa and multiple organ anomalies. The association with endocrine pathology is rare - described in isolated cases (Kallman syndrome, primary hypothyroidism (PH) and central precocious puberty). Noonan syndrome (NS) is a genetic disease usually diagnosed at birth, with variable phenotype. Most cases have AD transmission, with the PTPN11 gene mutation responsible for 50%....