Prader-Willi Syndrome: Pathogenesis and clinical findings

 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome 15

 • Deletion of critical region on 15q11.2-13 gene on paternal chromosome

->Loss of parental copy of 15q11.2-13 ->Disruption of hypothalamus

=>Prader-Willi Syndrome

Signs/Symptoms/Complications:

 • Gonadal hypoplasia, microphallus & delayed puberty -> Infertility

 • Decr Bone mineral density and osteoporosis -> Incr Skeletal fractures

 • Short stature

 • Poor suckling -> Neonatal and infantile failure to thrive

 • Obesity -> Type 2 diabetes, atherosclerosis, sleep apnea, cor pulmonale



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