Endocrine Abstracts

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neuro-endocrine tumour (ROHHAD-NET) is a rare syndrome associated with high morbidity and mortality. With no clear aetiology, diagnosis is based on constellation of clinical features. Management is supportive, although various immunosuppressive agents have been used with variable benefits. We present 3 cases of ROHHAD with heterogeneous presentations and clinical features.

Case 1: The patient presented at 6 years with sweatiness, tiredness and weight gain (BMI SDS +2.45). She had hyperprolactinaemia (3000mIU/l; NR<699), central diabetes insipidus (DI) with recurrent asymptomatic severe hypernatraemia (sodium up to 185 mmol/l), growth hormone (GH) deficiency and central hypothyroidism. MRI pituitary was normal. She has impaired glucose tolerance. A benign ganglioneuroma was found on MRI spine at age 13 along with an incidental finding of gut malrotation (requiring surgical correction) and polysplenia. Sleep studies remained normal until age 14 when she developed central hypoventilation requiring nocturnal BiPAP.

Case 2: The patient presented in cardio-respiratory arrest at 4 years of age following a 6-month period of rapid weight gain (BMI SDS +3.1). A sleep study showed central hypoventilation requiring nocturnal BiPAP. She was diagnosed with central DI, hyperprolactinaemia (1700mIU/l) and GH deficiency. MRI pituitary, abdomen and pelvis were normal. She had abnormal glucose handling on OGTT (2 h blood glucose 12.2 mmol/l; NR <11.1) but normal HbA1c (33 mmol/mol) and no features of diabetes.

Case 3: The patient presented aged 4 years with hyperphagia and rapid weight gain over a 7-month period (BMI SDS +3.83). She has hyperprolactinaemia (1104mIU/l; NR <699) central hypothyroidism, and intermittent hypernatraemia. MRI pituitary and whole body were normal. Aged 8 years, a sleep study to investigate daytime somnolence demonstrated central hypoventilation and nocturnal BiPAP was commenced.

Discussion: All three patients had obesity, central hypoventilation and hypothalamic-pituitary (HP) dysfunction. High prolactin was a consistent feature of HP dysfunction. Central hypoventilation and NET may not be present initially but may develop over time. Therefore, regular sleep studies and screening for NETs are required. A high degree of clinical suspicion of ROHHAD is needed in patients with early-onset obesity and HP dysfunction/hyperprolactinaemia with no structural pituitary abnormality.