Prader-Willi syndrome

Definition

Prader-Willi syndrome is a genetic disorder characterized by hypothalamic dysfunction, leading to growth hormone deficiencies and other metabolic issues. It often presents with symptoms like insatiable appetite, obesity, and developmental delays.

5 Must Know Facts For Your Next Test

1. Prader-Willi syndrome results from the loss of function of specific genes on chromosome 15.
2. Hypothalamic dysfunction in Prader-Willi syndrome affects the secretion of growth hormones.
3. Growth hormone therapy is commonly used to manage symptoms and improve physical development in patients with Prader-Willi syndrome.
4. Patients with Prader-Willi syndrome often require strict dietary controls due to an insatiable appetite and risk of severe obesity.
5. Pharmacological interventions may include growth hormone treatment as well as other medications to manage associated endocrine disorders.

Review Questions

• What chromosomal abnormality leads to Prader-Willi syndrome?
• How does hypothalamic dysfunction impact patients with Prader-Willi syndrome?
• What are common pharmacological treatments for managing Prader-Willi syndrome?

Related terms

Chromosome 15: The chromosome where genetic abnormalities can lead to Prader-Willi syndrome.

Hypothalamus: A brain region crucial for regulating hormonal functions affected in Prader-Willi syndrome.

Growth Hormone Therapy: A treatment used to address growth deficiencies in patients with conditions like Prader-Willi syndrome.