20.500.12556/DiRROS-30088 The endocrine manifestations of adults with spinal muscular atrophy 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. spinal muscular atrophy endocrine manifestations adults spinalna mišična atrofija endokrini simptomi odrasli true false true Angleški jezik Slovenski jezik Neznano 2026-06-15 11:33:38 2026-06-15 11:33:38 2026-06-16 03:54:47 0000-00-00 00:00:00 2024 0 0 str. 1230-1239 iss. 6 Vol. 70 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.8 0148-639X 10.1002/mus.28275 210399491 RAZ_Rakusa_Matej_2024.pdf RAZ_Rakusa_Matej_2024.pdf 1 3093797906236A1B8511AC4FC2B177CF 589bc0692ffd778b295fedee055d64ff911fe667c49ba8d136bdde6701f4b7e7 ae8a85ab-689d-11f1-aebd-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=45405 https://onlinelibrary.wiley.com/doi/epdf/10.1002/mus.28275 0 4afe36d1-689d-11f1-aebd-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=45404 Univerzitetni klinični center Ljubljana 0 0 0