hrp0098p1-185 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

Genetic analysis of a European cohort of ROHHAD patients

Buonocore Federica , Cerbone Manuela , Brooks Tony , Guftar Shaikh M , Heffernan Emmeline , Montero Raúl , Galcheva Sonya , Iotova Violeta , Mohamed Zainaba , Napoli Flavia , Anderson John , Maghnie Mohamad , T. Dattani Mehul

Introduction: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare life-limiting paediatric condition, with about 200 reported cases worldwide. The disease typically presents in early childhood (1.5-5y) with rapid-onset obesity. Other clinical symptoms may include central hypoventilation, hypothalamo-pituitary (H-P) dysfunction (hyperprolactinaemia, salt-water imbalances, anterior pituitary deficits...