Endocrine and metabolic complications in a national cohort of Slovene children and adolescents with Duchenne muscular dystrophy
Year: 2026
Type: article
Study design: Observational Study
Abstract: Aims: To assess the prevalence of endocrine/metabolic disorders among pediatric Duchenne muscular dystrophy (DMD) patients and identify individuals who would benefit from the new corticosteroid treatment available, vamorolone. Methods: A national pediatric cohort of DMD patients followed at University Children’s Hospital, University Medical Center Ljubljana in June 2025 was included in the study. The presence of endocrine/metabolic disorders was determined by clinical examination, laboratory data, and imaging at the last annual multidisciplinary evaluation. Results: A total of 21 patients (average age 11.1, range 4.6-16.7 yrs) were included in the study. Two patients were corticosteroid-naive, the rest treated with deflazacort (average treatment duration 5.4, range 1.1-11.3 yrs). At the time of final follow-up, 90% were diagnosed with an endocrine and/or metabolic disorder. Short stature was present in 67% of patients, a decline in height standard deviation score (SDS) since the initiation of corticosteroid therapy was observed, -2.37 SDS on average. Based on body composition data (fat % SDS), 57% were classified as obese. Lipid abnormalities were detected in 76% of patients. Insulin resistance (determined by HOMA-IR) was increased in 9.5% of patients
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7119261540
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