International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.

Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication.

Long-Acting Growth Hormone Therapy in Pediatric Growth Hormone Deficiency: A Consensus Statement.

Context: Several long-acting growth hormone (LAGH) therapies have recently become available, but guidance on their usage in children with growth hormone (GH) deficiency is limited.

Methods: International experts in pediatric endocrinology were invited to join a consensus group based on their expertise in treating children with daily GH and LAGH. The group comprised 11 experts from 10 countries across the world.

SPISE INDEX (Single point insulin sensitivity estimator): indicator of insulin resistance in children and adolescents with overweight and obesity.

Background: Insulin resistance in children and adolescents with obesity is linked to increased risk of type 2 diabetes mellitus and cardiovascular disease. The SPISE index, based on values of fasting triglycerides (mg/dL), HDL cholesterol (mg/dL), and BMI (kg/m2), shows promise in predicting insulin resistance in children.

Methods: This study aimed to identify a SPISE cut-off for detecting insulin resistance and evaluate its relationship with pubertal development, anthropometrics, and glycometabolic profile in 232 children and adolescents, 105 males and 127 females (median age 13.

Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3-Year Study.

Introduction/aims: Duchenne muscular dystrophy (DMD) is complicated by bone fragility. This study aimed to elucidate changes in bone mineral density (BMD) and body composition over time and to explore associations with adiposity measures in DMD.

Methods: A three-year follow-up analysis was performed of total body (TB) and lumbar spine (LS) dual-energy x-ray absorptiometry (DXA) measurements, anthropometric measures, Tanner stage and bone turnover biomarkers assessments, and the incidence of fragility fractures in 26 ambulant prepubertal DMD patients treated with deflazacort (DFZ).