hrp0094fc7.5 | Fetal Endocrinology and Multisystem Disorders | ESPE2021
Hawton Katherine
, Doffinger Rainer
, Ramanan Athimalaipet
, Langton Hewer Simon C
, Giri Dinesh
, Hamilton Shield Julian P
,
Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome that presents during early childhood and is associated with high morbidity and mortality. 40-50% of patients have neural crest tumours, most commonly ganglioneuromas or ganglio-neuroblastomas denoted by the suffix ROHHAD(NET) in a subset of patients. Currently, there is no specific diagnostic biomarker available and diagnosis...