ea0081ep881 | Reproductive and Developmental Endocrinology | ECE2022
, 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%....