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The endocrine manifestations of adults with spinal muscular atrophy
ID Rakuša, Matej (Author), ID Koritnik, Blaž (Author), ID Leonardis, Lea (Author), ID Goričar, Katja (Author), ID Rudolf, Tjaša (Author), ID Firbas, Dejan (Author), ID Snoj, Žiga (Author), ID Jensterle Sever, Mojca (Author)

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Abstract
Introduction/Aims: Changes in body composition in patients with spinal muscular atrophy (SMA) can cause endocrine abnormalities that are insufficiently studied in adults. We aimed to assess the endocrine profile in a cohort of adults with SMA. Second, we compared body composition and endocrine profiles between nonambulatory and ambulatory patients and between different types of SMA. Methods: The cross-sectional study included 29 SMA patients (18 [62.1%] males and 11 [37.9%] females) of median age 44 (IQR 30–51.5) years with type 2, 3, or 4. Body composition was measured by bioimpedance. Morning blood samples were drawn for glycated hemoglobin (HbA1c), lipid profile, testosterone, cortisol, and insulin-like growth factor-1 (IGF-1). Blood glucose, insulin, and beta-hydroxybutyrate (BHB) were measured during a 75 g oral glucose tolerance test. The homeostatic model assessment for insulin resistance index was calculated. Results: In total, 75.9% of patients had increased fat mass (FM), with 51.7% having an increase despite normal body mass index. Ambulation was the most important discriminating factor of body composition. 93.1% of patients had metabolic abnormalities, including hyperglycemia, insulin resistance, and dyslipidemia. Increased BHB, a marker of ketosis, was present in more than a third of patients. Functional hypogonadism was present in half of male patients. Testosterone and IGF-1 negatively correlated with FM. Discussion: Adult patients with SMA had abnormal body composition and highly prevalent metabolic disturbances that might increase cardiometabolic risk. Because treatments have modified the course of SMA, it is important to investigate whether these observations translate into clinically relevant outcomes.

Language:English
Keywords:spinal muscular atrophy, endocrine manifestations, adults, beta-hydroxybutyrate, body composition, glucose metabolism, hypogonadism, lipid profile
Work type:Article
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Publication status:Published
Publication version:Version of Record
Year:2024
Number of pages:Str. 1230–1239
Numbering:Vol. 70, iss. 6
PID:20.500.12556/RUL-164877 This link opens in a new window
UDC:616.8
ISSN on article:0148-639X
DOI:10.1002/mus.28275 This link opens in a new window
COBISS.SI-ID:210399491 This link opens in a new window
Publication date in RUL:14.11.2024
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Downloads:24
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Record is a part of a journal

Title:Muscle & nerve
Shortened title:Muscle nerve
Publisher:Wiley
ISSN:0148-639X
COBISS.SI-ID:25987584 This link opens in a new window

Licences

License:CC BY-NC 4.0, Creative Commons Attribution-NonCommercial 4.0 International
Link:http://creativecommons.org/licenses/by-nc/4.0/
Description:A creative commons license that bans commercial use, but the users don’t have to license their derivative works on the same terms.

Secondary language

Language:Slovenian
Keywords:spinalna mišična atrofija, endokrini simptomi, odrasli

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