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Syndromic and non-syndromic obesity conditions in children, such as Prader-Willi syndrome (PWS) and non-alcoholic fatty liver disease (NAFLD), both lower quality of life and increase risk for chronic health complications, which further increase health service utilization and cost. In a pilot observational study, we compared body composition and muscle strength in children aged 7−18 years with either PWS (n = 9), NAFLD (n = 14), or healthy controls (n = 16). Anthropometric and body composition measures (e.g., body weight, circumferences, skinfolds, total/segmental composition, and somatotype), handgrip strength, six minute-walk-test (6MWT), physical activity, and markers of liver and cardiometabolic dysfunction (e.g., ALT, AST, blood pressure, glucose, insulin, and lipid profile) were measured using standard procedures and validated tools. Genotyping was determined for children with PWS. Children with PWS had reduced lean body mass (total/lower limb mass), lower handgrip strength, 6MWT and increased sedentary activity compared to healthy children or those with NAFLD (p < 0.05). Children with PWS, including those of normal body weight, had somatotypes consistent with relative increased adiposity (endomorphic) and reduced skeletal muscle robustness (mesomorphic) when compared to healthy children and those with NAFLD. Somatotype characterizations were independent of serum markers of cardiometabolic dysregulation but were associated with increased prevalence of abnormal systolic and diastolic blood pressure Z-scores (p < 0.05). Reduced lean body mass and endomorphic somatotypes were associated with lower muscle strength/functionality and sedentary lifestyles, particularly in children with PWS. These findings are relevant as early detection of deficits in muscle strength and functionality can ensure effective targeted treatments that optimize physical activity and prevent complications into adulthood.
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http://dx.doi.org/10.3390/ijms232315115 | DOI Listing |
Front Endocrinol (Lausanne)
September 2025
Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by severe multisystem comorbidities and increased mortality. Although growth hormone therapy (GHT) is widely used as standard care, population-based evidence on its long-term safety, particularly in relation to mortality and type 2 diabetes mellitus (T2DM), remains limited. We aimed to investigate the associations between GHT duration, mortality, and T2DM incidence in PWS.
View Article and Find Full Text PDFAnn Hum Biol
December 2025
Growth and Development Department, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
Background: Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by infantile hypotonia, early-onset obesity, intellectual disability, hypopigmentation, small hands and feet, short stature, hypogonadism, and distinctive facial features.
Aim: To generate and report growth curves for height, sitting height, hands and feet length for Argentine children with Prader-Willi syndrome (PWS) without growth hormone treatment.
Subjects And Methods: A total of 1174 anthropometric measures were obtained from 167 children (82 boys) aged 0-19 years attending Hospital Garrahan between 1992 and 2019.
Mol Cytogenet
August 2025
Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, Zhejiang, China.
Background: Prader-Willi Syndrome (PWS) is a complicated genetic disorder demonstrating a variety of clinical phenotypes. Using molecular cytogenetics approaches to detect the deletions of the paternal 15q11-q13 region and maternal uniparental disomy of chromosome 15 plays an important role in the prenatal diagnosis of PWS.
Case Presentation: A pregnant woman with advanced maternal age underwent amniocentesis.
J Pediatr Adolesc Gynecol
August 2025
University of Colorado Anschutz Medical Campus, Department of Pediatrics, Section of Endocrinology, Children's Hospital Colorado, Aurora, CO, USA.
Introduction: Prader-Willi Syndrome (PWS) is associated with hypogonadism. Limited data exist on guidelines for sex hormone replacement therapy (HRT) in females with PWS. We aimed to characterize pubertal timing, vaginal bleeding patterns, and HRT practices in adolescent and young adult females with PWS.
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