ESPE Abstracts

Introduction: Type 1 Narcolepsy is a rare pediatric condition characterized by central hypersomnia secondary to hypocretin deficiency. It can also involve the neuroendocrine axis, in particular determining obesity and central precocious puberty (CPP).

Objectives: The primary aim of this study is the evaluation of endocrine and auxological aspects at diagnosis and during follow-up in children affected with T1N, in treatment with Sodium Oxibate or not.

Methods: We retrospectively evaluated medical records of 98 consecutive patients affected with T1N during the period 2004-2020. We evaluated auxological, biochemical and radiological parameters for investigate endocrine-metabolic complications.

Results: 98 consecutive patients fulfilled inclusion criteria and were recruited for the study: 53 boys e 45 girls. Median follow up was 36 ± 16 months. Median age at diagnosis was 10,4 ± 3,2. At diagnosis we find a median height (SDS) of 0.6 ± 1.1 and BMI (SDS) of 1.1 ± 1.1. Overweight was reported in 25/97 (25.7%) and obesity in 33/97 (34%). A diagnosis of CPP was confirmed in 21/98 cases (21.4%) without significative gender differences. Treatment with GnRH agonist was necessary in 11/21 cases (52.3%). The other hormonal investigations were all within the limits of normality. Patients treated with Sodium Oxibate at 12 months of follow up were 46/98 (46.9%). After 36 months of follow up, we find a significative difference in BMI SDS between Sodium Oxibate treated vs untreated patients (0,0 ± 1,3 vs 1,3 ± 0,4) (P < 0.003). 62 patients reached their final height, with a median SDS of 0.5 ± 1.1 in boys and 0.3 ± 1.2 in girls. Target parental height was 0.2 ± 0.8 SDS in boys and 0.3 ± 0.7 in girls. There were no statistical differences between treated and untreated groups.

Conclusions: The results of our study confirm an increased frequency of CPP and obesity in T1N patients compared to general population. The treatment with Sodium Oxybate leads to an improvement of the BMI which also persist at 36 months of follow up. To our knowledge, these are the first results regarding the final height in a large series of patients diagnosed with T1N in pediatric age. IGF1 levels were in the normal range and stature SDS during follow-up and final height were in the range of parental target height.