| Title: | The endocrine manifestations of adults with spinal muscular atrophy |
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| Authors: | 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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| Files: |  PDF - Presentation file, download (1,26 MB)
MD5: 3093797906236A1B8511AC4FC2B177CF
 URL - Source URL, visit https://onlinelibrary.wiley.com/doi/epdf/10.1002/mus.28275
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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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. |
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| Keywords: | spinal muscular atrophy, endocrine manifestations, adults |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2024 |
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| Number of pages: | str. 1230-1239 |
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| Numbering: | Vol. 70, iss. 6 |
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| PID: | 20.500.12556/DiRROS-30088  |
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| UDC: | 616.8 |
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| ISSN on article: | 0148-639X |
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| DOI: | 10.1002/mus.28275 |
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| COBISS.SI-ID: | 210399491 |
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| Publication date in DiRROS: | 15.06.2026 |
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| Views: | 86 |
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| Downloads: | 55 |
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