Prader-Willi Syndrome

Prader-Willi syndrome is a rare, complex genetic condition affecting the metabolic, endocrine, and neurologic systems. It stands out as the predominant syndromic manifestation of obesity. Patients with Prader-Willi syndrome exhibit behavioral, developmental, and intellectual difficulties characterized by severe hypotonia and feeding difficulties in the first years of life. Global developmental delay, hyperphagia, and the onset of obesity manifest around the age of 3. Individuals with Prader-Willi syndrome display distinctive facial features, strabismus, and musculoskeletal abnormalities.

Many patients with Prader-Willi syndrome have short stature due to growth hormone deficiency (GHD). Additionally, they face hypothalamic dysfunction, contributing to various endocrinopathies, including hypogonadism, hypothyroidism, central adrenal insufficiency, and reduced bone mineral density. Continuous monitoring by an endocrinologist is crucial for these patients throughout their lifespan.