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Prader-Willi Syndrome

Meaning

A complex, rare genetic disorder characterized by a wide array of physical, cognitive, and behavioral symptoms, stemming from the loss of function of specific genes on chromosome 15. The syndrome is a significant concern in endocrinology due to its hallmark features, including neonatal hypotonia, developmental delays, and a chronic feeling of insatiable hunger (hyperphagia) leading to severe obesity and secondary endocrine dysfunctions. Hypogonadism and growth hormone deficiency are common and require targeted hormonal interventions.