Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is associated with an increased cardiometabolic risk in adult life. Nevertheless, data regarding pediatric age is scarce. We aimed to evaluate cardiometabolic risk factors in patients with CAH due to 21-hydroxylase deficiency in pediatric age.Methods: We reviewed the clinical records of patients with CAH evaluated in a Pediatric Endocrinology Unit in a central hospital. Pat...

Introduction: Cushing’s disease (CD) is rare in children. It’s most common clinical manifestations are growth retardation, changes in pubertal development and weight gain. The diagnosis, based on clinical suspicion, is often hampered by the non identification of the microadenoma in MRI.Clinical history: A 14-year-old male patient, with short stature, growth arrest after 12 years and weight gain since age of 9. At physical examination, he had mo...

Introduction: Prolactinomas are the most common pituitary adenomas in paediatric patients, except in the first decade of life, when ACTH secreting adenomas are more frequent.Objective: Analysis of clinical, diagnostic and therapeutic data of prolactinomas in paediatric age.Methods: Retrospective study of 15 patients whose symptoms began before 18 years of age.Results: In girls, secondary amenorrhea (58.3%) an...

Introduction: Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes caused by mutations in islet-related genes characterized by early-onset and inheritance in an autosomal dominant manner. MODY accounts for 2 to 5% of all cases of diabetes. The clinical presentation is heterogenous. Our aim was to characterize clinical features of patients with MODY in our department.Methods: We retrospectively analysed MODY diabetes cases diagnosed...