Endocrine Abstracts

Introduction: ROHHADNET is a rare syndrome characterized by rapid onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumours. Although obesity is the first recognisable feature, there is variable onset of other features, resulting in delayed or missed diagnosis, potentially leading to fatal consequences. We describe two cases with features of ROHHADNET, who had high heterogeneity in clinical spectrum.

Case-1: 5-year old girl presented with rapid weight gain with BMI-SDS + 3 and suspected Cushing’s syndrome. Her abdominal scan showed a paravertebral ganglioneuroma which was resected. She developed hypothalamic dysfunction at age 6 years with panhypopituitarism (thyroxine stimulating hormone (TSH), adrenocorticotropic hormone (ACTH) and growth hormone deficiency (GHD), with transient diabetes insipidus and subsequently, hypogonadotropic-hypogonadism. Autonomic dysregulation was evident as syncope, sweating and hypothermia. She had obstructive sleep apnoea (OSA) and prolonged QT syndrome. Her MRI pituitary and OGTT were normal. There was no response to immunoglobulin therapy. She remains under multidisciplinary team surveillance and was transitioned to adult service at 18-years.

Case-2: 6-year old presented with obesity, BMI-SDS +2.8, was diagnosed with right suprarenal ganglioneuroblastoma, treated with surgery and chemotherapy abroad. She presented to our endocrine clinic in UK at 10 years of age with obesity (BMI-SDS +3.4), short stature, evolving endocrine dysfunction [hyperprolactinaemia (1800 U/l), GHD, TSH deficiency] and later developed hypogonadotropic hypogonadism with normal pituitary MRI. She had features of autonomic dysfunction (hypothermia and sweating). She was treated with cabergoline, growth hormone, thyroxine replacement and induction of puberty. At 15 years of age, she developed rapid weight gain (20 kg in 6 months; BMI 39.6 SDS 3.7), mild dyslipidaemia, and OSA. She awaits detailed respiratory assessment for BIPAP and immunomodulator therapy.

Discussion: ROHHADNET is mainly known to present with rapid onset obesity, as seen in both our cases. Although central hypoventilation is a recognized feature of this rare condition, we did not find conclusive evidence of hypoventilation in our cohort. However, the constellation of neuroendocrine tumour with central endocrinopathy and autonomic dysfunction were striking features suggesting ROHHADNET. Clinical features of ROHHADNET may vary and evolve over time. We propose a judicious MDT approach with early intervention to improve prognosis and life expectancy.