Prader Willi Syndrome

What is Prader Willi Syndrome?

Prader Willi is a genetic condition characterized by unexpressed or deleted genes. Specifically, the seven abnormal gene expression in chromosome 15 result in problems with physical development. Prader Will also affects cognitive development, appetite, and general behavior.

In fact, an overwhelming appetite is one of the most distinguishing signs of Prader Willi Syndrome. Unfortunately, the never-ending hunger can lead to severe obesity in young children. It affects children of all genders, causing them to eat more than average for their age and size.

Growth Hormone for Prader Willi

HGH is a critical hormone for regulating homeostasis in development throughout the body. It helps muscle, bone, and organs grow normally, and maintaining adequate levels of human growth hormone can counteract some of the symptoms of Prader Willi.

Symptoms from age 0 to 12 months old:

Newborns with Prader WIlli are typically much lighter than others. They also suffer from incredibly weak muscles that makes it hard to suckle, leading to malnutrition and even greater weight loss. Their features include almond-shaped eyes, a small mouth with thin upper lip, narrow temples, and underdeveloped genitalia. They might have signs of depigmentation in the eyes and skin, and/or develop crossed or non-uniform eyes. Finally, they may respond less to stimulation, look exhausted, and exhibit a weak cry.

Symptoms from 1 Year Old to Young Adulthood

Hypogonadism and hyperphagia tend to emerge around age two. Hyperphagia is the abnormal appetite linked to obesity, while hypogonadism come from little hormonal production in the sex organs. Females might never experience menstruation, and testes might not descend in males. Other symptoms include:

  • Stunted growth
  • Weak muscles
  • Small physical features
  • Learning disabilities
  • Delayed motor skill development
  • OCD, personality disorders, depression, and other behavioral disorders
  • Sleep issues
  • Scoliosis
  • Low skin and hair pigmentation
  • Shortsightedness
  • A high pain threshold

Causes

Prader Willi Syndrome comes from a genetic abnormality in chromosome 15 that affects the hypothalamus. An abnormally functioning hypothalamus leads to severe hunger and thirst and damaged growth and sexual development.

Diagnosis

Genetic testing known as methylation is the standard form of diagnosis. Contact a doctor to get your child tested for Prader Willi Syndrome.

Treatment

Although there’s no known cure, human growth hormone therapy can help manage the symptoms. HGH reduces body fat and facilitates normal growth. Other approaches include nutritional therapy or supplementation, which can also take place alongside HGH therapy.

FDA Approved Usage

HGH (Human Growth Hormone) or Somatropin has been approved to treat this condition.

For more information visit the FDA official site here.