ESPE Abstracts

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome of unknown etiology, associated with high morbidity and mortality. The goal was to characterize endocrine symptoms of patients with ROHHAD syndrome treated in our centre in years 2009-2024. We identified and reviewed the charts of 4 patients with ROHHAD syndrome. The male to female ratio was 1:3. Definitive diagnosis of ROHHAD syndrome was made after alveolar hypoventilation during sleep was proven (mean age of diagnosis 6 years and 8 months; range 2 yrs 8 monts -12 years 8 months), but other pathognomonic symptoms occurred years prior (mean time from onset of symptoms to diagnosis was 3 years, range 8 months -7 years). All patients (n = 4) presented with rapidly increasing obesity before the age of 10 (mean age: 3 years and 6 months, range: 2-6 years of age). All patients (n = 4) presented with clinical and laboratory signs of hypothalamic dysfunction: hyperprolactinemia (mean:1328,5 uIU/ml, range 460-3576) and hypernatremia (mean:152 mmol/l, range 143-157). Other hypothalamic abnormalities included: hypothyroidism (n = 3), hypodipsia (n = 2) central precocious puberty (n = 1). Two patients were diagnosed with short stature (height < -2,0 SD for sex, age according to our population’s growth charts). One patient was diagnosed with growth hormone deficiency (height < -2,0 SD, delayed bone age, peak GH level on provocation was <1 ng/ml) and was recently qualified for rhGH treatment. All patients presented with different degrees of autonomic dysregulation: cold hands and feet (n = 4), strabismus (n = 2), thermal dysregulation (hypothermia n = 3, hyperthermia: n = 1), bradycardia (n = 1) neurogenic bladder (n = 2) excessive sweating (n = 3) We did not detect any structural anomaly of the pituitary in our patients, in two cases MRI of the brain revealed mild ventriculomegaly. In addition, all patients presented with a spectrum of behavioral changes. None of our patients was diagnosed with neuro-endocrine tumor. We conclude that ROHHAD syndrome should be suspected in all children with rapid onset obesity at a young age accompanied by hyperprolactinemia. With increased worldwide incidence of obesity in the pediatric population, patients at risk for ROHHAD syndrome should be selected and subjected to sleep studies and careful multidisciplinary evaluation.