Question

Individual B has Prader-Willi syndrome (PWS), which is caused by a partial deletion of chromosome 15.

a) Describe the hormonal impact of PWS.

b) Phenotypically, is individual B likely to be underweight, normal weight, or overweight? Why?

Answer 1

a)* The children with Prader Willi syndrome are usually short-statured, reduced muscle mass and increase in adipose tissue composition abnormalities resembling like growth hormone deficiency.

*Growth hormone treatment in these children helps to reduce fat deposition, promote linear bone growth and increase muscle mass etc.

*Children with Prader Willi syndrome also show hypogonadism. The sex hormones are found to less in these children. Some children with undescended testes also found.

b)*B individual is likely to be overweight. Because people with Prader Willi syndrome have increased the production of ghrelin, which contribute to increase in appetite, hyperphagia and obesity seen in this syndrome.

* Increase adipose tissue composition due to growth hormone deficiency also a cause of overweight.