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. 2023 Jun 15:14:1037398.
doi: 10.3389/fendo.2023.1037398. eCollection 2023.

Auxological and endocrine findings in narcolepsy type 1: seventeen-year follow-up from a pediatric endocrinology center

Sara Casale  1 , Valentina Assirelli  1 , Fabio Pizza  2   3 , Antonio Balsamo  4 , Monia Gennari  5 , Andrea Pession  5   6 , Giuseppe Plazzi  3   7 , Alessandra Cassio  5   6
Affiliations

Auxological and endocrine findings in narcolepsy type 1: seventeen-year follow-up from a pediatric endocrinology center

Sara Casale et al. Front Endocrinol (Lausanne). .

Abstract

Introduction: Narcolepsy Type 1 (NT1) is a rare hypersomnia of central origin linked to hypocretin deficiency, most frequently arising at pediatric age. NT1 could be associated with endocrine comorbidities involving the neuroendocrine axis, predominantly obesity, and Central Precocious Puberty (CPP). The primary aim of this study is the evaluation of endocrine and auxological parameters at diagnosis and during follow-up in patients with NT1, treated with Sodium Oxybate (SO) or not.

Methods: We retrospectively evaluated the auxological, biochemical, and radiological parameters of 112 patients referred to our Center between 2004-2022. The design of our study is cross-sectional at the time of diagnosis followed by a longitudinal follow-up.

Results: Our study confirms an increased frequency of CPP and obesity in patients with NT1. At first evaluation, obesity was found in 31.3% of patients, while overweight was found in 25.0%. A diagnosis of CPP was made in 19.6% of patients. Interestingly, this group showed a significantly lower level of CSF-hypocretin (hrct-1) at diagnosis compared to others. We found an improvement in BMI SDS in the SO-treated group compared to untreated patients, and this trend persisted also at 36 months of follow-up (0.0 ± 1.3 vs 1.3 ± 0.4; p<0.03). Sixty-three patients reached their final height, with a median SDS of 0.6 ± 1.1 in boys and 0.2 ± 1.2 in girls.

Discussion: To our knowledge, these are the first results regarding the final height in a large series of pediatric patients with NT1, with a normal range of IGF1-SDS levels and stature SDS.

Keywords: central precocious puberty; final height; narcolepsy type 1; obesity; sodium oxybate.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
BMI SDS of all patients overall and divided according to Sodium Oxybate (SO) therapy at the baseline from the time of diagnosis up to 36 months. Blue line is representative of all patients with NT1 (112); orange line is representative of patients with NT1 treated with SO (64), red line is representative of Patients with NT1 not treated with SO (48). T0, T1, T2 and T3 are the times at diagnosis, 12, 24 and 36 months of follow-up, respectively. * p < 0.003 between BMI SDS in patients treated with SO at the baseline and BMI SDS at 36 months of follow-up, $ p < 0.007 between BMI SDS in patients treated with SO at baseline and patients not treated with SO at 24 months of follow-up, § p < 0.03 between BMI SDS in patients treated with SO at baseline and patients not treated with SO at 36 months of follow-up. Statistical comparisons were assessed by Student T for continuous data. A p value < 0.05 was considered statistically significant.
Figure 2
Figure 2
Height SDS of all patients with NT1 overall. T0, T1, T2 and T3 are the times at diagnosis, 12, 24 and 36 months of follow-up, respectively. No statistically significant difference has been found between final height compared to target height. Statistical comparisons were assessed by Student T for continuous data. A p value < 0.05 was considered statistically significant.
See this image and copyright information in PMC

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