# Prader-Willi Syndrome: Genetics, Symptoms, and Management
> Explore the genetics, clinical features, and multidisciplinary treatment of Prader-Willi Syndrome (PWS), covering hyperphagia, diagnosis, and GH therapy.

Tags: prader-willi-syndrome, genetics, endocrinology, rare-diseases, medical-education, hyperphagia, chromosome-15
## Prader-Willi Syndrome (PWS) Overview
* **Prevalence:** 1 in 20,000–30,000 births worldwide.
* **Definition:** A rare, multisystem genetic disorder caused by the loss of paternally inherited genes on chromosome 15q11.2–q13.
* **Key Feature:** Hyperphagia (insatiable hunger) is a primary life-threatening symptom leading to obesity.

## Symptoms and Clinical Features
* **Infancy:** Severe hypotonia, poor sucking reflex, feeding difficulties, and developmental delay (median walking age ~27 months).
* **Childhood/Adolescence:** Transition to hyperphagia (age 2-3), short stature, and behavioral challenges (rigidity, OCD).
* **Adulthood:** Hypogonadism, sleep disturbances, respiratory complications, and intellectual disability.

## Etiology & Genetic Mechanisms
* **Paternal Deletion (70%):** Deletion of the 15q11.2–q13 region.
* **Maternal Uniparental Disomy (25%):** Inheriting two copies of chromosome 15 from the mother.
* **Imprinting Defects (1–5%):** Defects in the genomic imprinting process.

## Diagnostic Tools
* **DNA Methylation Analysis:** Gold standard; detects >99% of cases.
* **Supporting Tests:** Growth hormone stimulation, thyroid function, polysomnography, and DXA scans.

## Treatment & Management
* **Nutritional:** Mandatory strict caloric control and environmental food management.
* **Growth Hormone (GH):** Used to improve lean body mass, height, and metabolism.
* **Hormonal:** Replacement therapy for hypogonadism and hypothyroidism.
* **Psychosocial:** Individualized Education Plans (IEPs) and mental health support for families.
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