Prader-Willi Syndrome: The Genetic Enigma Impacting Fertility

Prader-Willi syndrome (PWS) is a rare genetic condition that affects that gives rise to problems with the physical, mental, and behavioral aspects of an individual. The condition causes a sense of constant hunger that usually begins at about two years of age. People with this syndrome always crave food because they never feel satisfied. This usually leads to problems in them controlling their weight. Many of the subsequent complications experienced are usually due to the resulting obesity. The condition is best managed by a team approach, where various specialists can work on the individual to reduce their risk of developing complications and improve the quality of their lives.

What are the symptoms of this syndrome?

The signs and symptoms observed can vary between individuals; the symptoms are also different for different periods in the individual’s life. They also change from when they are infants to adulthood.

Infants:

• Poor muscle tone
• Poor sucking reflex
• Poor responsiveness or activeness
• Distinct facial features
• Underdeveloped genitals

Childhood to adulthood:

• Food cravings and weight gain
• Underdeveloped sexual organs
• Poor growth and physical development
• Cognitive impairment
• Speech problems
• Delayed motor development
• Behavioral problems
• Sleep disorders
• Physical abnormalities

What is the cause of the syndrome?

The syndrome is a genetic disorder, which is an error in one or more genes. While the exact mechanisms that are responsible for Prader-Willi syndrome have not been identified, the problem lies in the genes located in a particular region of chromosome 15. At conception, an individual inherits one copy of chromosome 15 from each of their parents. The paternal copy of that chromosome is the only one that activates, while the maternal copy is turned off. Both copies are necessary for the gene to get the instructions that the body needs to function properly. Prader-Willi syndrome occurs because certain paternal genes that should be expressed are not due to one of the following:

• There is an error or defect in paternal genes on chromosome 15
• The paternal genes on chromosome 15 are missing
• The child inherits two copies of chromosome 15 from the mother and none from the father

This defect in chromosome 15 disrupts the normal functions of the hypothalamus which regulates the release of hormones. This malfunction of the hypothalamus interferes with the processes that lead to problems with hunger, growth, mood, sleep, body temperature, and sexual development.

How is the syndrome diagnosed?

This can be done through a basic physical examination and genetic testing. The doctor examines the individual for the typical signs of the syndrome like related facial features, weakness or floppiness, and excessive weight gain in young children. The confirmation of the syndrome comes from a blood test to look for issues with chromosome 15.

What are the different complications that can result from the syndrome?

Many different complications can result from the efficiencies caused by this syndrome. They can be grouped under different headings based on the body systems that are affected.

Complications caused by obesity 

Constant hunger, in combination with low muscle mass, that is caused by the syndrome leads to the individual requiring lower average calories. They may not even be physically active as well. This combination predisposes the individual to obesity and the problems that come with it like diabetes, high cholesterol, high blood pressure, sleep apnea, etc.

Complications caused by inadequate hormone production 

The complications that arise from the hypothalamus-induced inadequate production of hormones include:

• Sterility – Even though there have been cases where individuals with this syndrome became pregnant, the general outlook for most people with the syndrome is infertility or inability to have children.
• Osteoporosis – This is the weakness and brittleness of bones, causing them to break easily. The low level of sex hormones and low levels of growth hormones are the cause of this because both hormones help maintain strong bones.

Other complications 

Some other complications that may result from Prader-Willi syndrome include:

• Binge eating – This habit which is eating lots of food quickly can cause the stomach to become abnormally enlarged. It may also result in choking and in very rare cases, stomach rupture.
• Reduced quality of life – The behavioral problems caused by the syndrome can lead to problems or friction between the individual and their family. It can also hamper a successful education and social participation. These can all combine to reduce the quality of life of the individual.

What is the treatment of the syndrome?

There is no cure currently for Prader-Willi syndrome. Management and treatment of the particular symptoms that arise from the syndrome may help in the improvement of the quality of life of the individual. Some tips for the different stages of the disease include:

Infancy and childhood 

Dietary help and supervision around overeating. Medication to help support the hormone inadequacies, the hormones that can be supplemented include: growth hormones, testosterone, estrogen, and HCG (human chorionic gonadotropin). Also, therapies around the speech, behavior, and physical aspects of the individual will help. They can also be given learning support.

Adulthood 

Most adults with this syndrome cannot live independently. Those who do not stay with their family can benefit from a supportive living environment like a group home. In residential settings, these adults can work at supervised jobs, socialize, and get the medical help that they need. Getting this medical care is very important for an individual with this syndrome. Some of the additional tips they can practice at home include:

• Promoting a moderate weight through regular exercise and movement
• Limiting their free access to food thus preventing binge eating
• Helping plan their day to help with behavior issues
• Eating a varied diet with the meals being strictly scheduled
• Leaning into support groups for resources

Surrogacy can help with the infertility faced by these individuals. Their eggs can be harvested through assisted reproductive methods and fertilized by a donor or their partner. This can then be transferred to a surrogate to help them carry and deliver the baby. Medical tourism can be of help to individuals where this is prohibited in their own home countries. Overseas medical treatment which can be offered by medical travel agencies or meditour agencies can be used to achieve their aims of expanding their family, this can be a form of health tourism.