Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.
Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patients.
Methods: We included individuals with ROHHAD(NET), who were followed at our centre (Pediatric Endocrine Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy) between January 2008 and December 2020 (median follow up 7.82years, 4.12-8.80y).They were selected by clinical criteria, after excluding Prader-Willi Syndrome and Congenital Central Hypoventilation Syndrome. Medical history, anthropometric, hormonal and densitometric data were collected for the two groups of patients (ROHHAD and ROHHADNET) and analyzed.
Results: In our cohort of 14 patients (9 females - 64,3%), NET were reported in 4 females (28,5%). Median age at rapid weight gain onset was 3 years in both groups (2.5 3 vs 1.5 4).Median BMI SDS at diagnosis was +4.13 vs +4.6.Seven patients have pubertal disorder (either precocious puberty or central hypogonadism), 4 patients with NET(57,1%) and 3 without NET(42,9%)(P = 0.2). Nine patients have GHD, 4 with NET(44,4%) and 5 without NET(P = 0.22).Ten patients have central hypothyroidism, 2 with NET (20%) and 8 without NET(P = 0.52).Eight patients have adrenal insufficiency, 2 with NET (25%) and 6 without NET(P = 1.00).Prolactin level was elevated in all patients with NET, and 8 patients without NET.Five patients have strabismus, 3 patients with NET (60%), and 2 without NET(p =0.1). Nine patients have autonomic dysfunction, 1 with NET (11,1%), and 8 without NET(p =0.1).Back to data from birth, there was no difference in birth length between the two groups, while patients with NET showed a lower median birth weight SDS(-0,26 vs 0,84,p=0.06). Regarding DXA parameters, there was no difference in BMD SDS total body between patients with NET and without NET, while patients with NET showed a higher BMD SDS L1-L4(1.55 vs 0.7) (p =0.06).
Conclusion: Our patients with ROHHAD who developed NET are females (100%), they tend to have a lower birth weight, higher BMD SDS L1-L4, and greater incidence of strabismus and autonomic dysfunction. None of these associations are significant because of low numbers. Multicentric cohorts need to be analyzed in order to better understand the clinical characteristics of this rare and severe disease.
22 Sep 2021 - 26 Sep 2021