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

Frontiers in Endocrinology

Endocrinology

Fabio Pizza¹  Antonio Balsamo²  Giuseppe Plazzi³  Monia Gennari⁴  Andrea Pession⁵  Alessandra Cassio⁵  Sara Casale⁶  Valentina Assirelli⁶ 

[1] Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy;Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy;Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy;Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy;Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio-Emilia, Modena, Italy;Pediatric Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy;Pediatric Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy;Department of Medical and Surgical Sciences, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Bologna, Bologna, Italy;Specialty School of Pediatrics, Alma Mater Studiorum, University of Bologna, Bologna, Italy;

关键词: narcolepsy type 1;    obesity;    central precocious puberty;    final height;    sodium oxybate;   

DOI  :  10.3389/fendo.2023.1037398

 received in 2022-09-05, accepted in 2023-05-26,  发布年份 2023

来源: Frontiers

【 摘 要 】

IntroductionNarcolepsy 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.MethodsWe 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.ResultsOur 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.DiscussionTo 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.

【 授权许可】

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Copyright © 2023 Casale, Assirelli, Pizza, Balsamo, Gennari, Pession, Plazzi and Cassio