Endocrine disorders in children with Prader-Willi syndrome--data from 142 children of the French database

Area of Science:

• Pediatric Endocrinology
• Genetics and Rare Diseases
• Clinical Data Registries

Background:

• Prader-Willi syndrome is a complex genetic disorder characterized by hyperphagia and endocrine dysfunctions.
• Understanding the prevalence and impact of these dysfunctions is crucial for patient management.

Purpose of the Study:

• To report the initial findings from the French National Prader-Willi pediatric database.
• To characterize endocrine dysfunctions in a cohort of French children with Prader-Willi syndrome.

Main Methods:

• Data collected via questionnaires from practitioners for 142 children (0.2-18.8 years).
• Statistical analysis performed by the reference center's coordination team.
• Utilized International Obesity Task Force 2000 criteria for obesity assessment.

Main Results:

• Median BMI Z-score was +1.3; 40% were overweight or obese.
• Growth hormone deficiency (80%) responded to treatment with height gain and BMI reduction.
• Hypogonadism (49%) and hypothyroidism (24.4%) were prevalent; 4% had glucose intolerance, with no diabetes detected.

Conclusions:

• Provides an overview of endocrine issues in French pediatric Prader-Willi syndrome patients.
• The national database will expand to include the entire country and adult patients.
• Highlights the significant endocrine burden and treatment response in this population.