What is Triple X Syndrome?
Triple X syndrome (also known as Trisomy 18) is a rare genetic disorder characterized by three copies of chromosome 18 instead of the usual two. There are currently no effective treatments or cures for triple x syndrome. However, there are several genetic tests available to determine if someone has the condition.
The term “triple x” refers to the fact that there are actually three different genes involved in causing triple x syndrome. These genes have been named SLC24A5, TYR and TET1. In most cases, the patients have three copies of chromosome 18.
Most people with triple x syndrome are infertile, which is a contributing factor to the fact that it is so rare. The children of those who do have triple x syndrome are also at higher risk of having the condition themselves. Most people with triple x syndrome live until their teenage years or early adulthood.
The symptoms of triple x syndrome can vary widely from patient to patient. Most infants are born with a relatively normal appearance. The symptoms of the syndrome develop over time, which can be extremely rapid in some cases.
In many patients, the development of bones and cartilage is severely stunted. This can lead to frequent dislocations, curvature of the spine and other skeletal abnormalities. In many cases, skin discoloration is also common.
Most infants with triple x syndrome will also suffer from a number of heart defects. These can include holes in the heart, an abnormal connection between the two chambers of the heart and other issues. Eye problems, seizures and a number of other issues are also common in infants with triple x syndrome.
The symptoms of triple x syndrome can vary greatly from patient to patient.
Patients with the syndrome often lead relatively normal lives, assuming their condition doesn’t cause complications that prove to be fatal. However, most of those who survive past the age of two are usually unable to do normal activities such as walking or running. Most must use a wheelchair to get around, and many require constant medical attention due to their conditions.
There are also some reports of patients suffering from mental disabilities such as learning disabilities and autism.
The syndrome can be diagnosed before birth via amniocentesis, after birth via a physical examination or after birth via genetic testing. The triple x syndrome life expectancy can be anywhere from a few hours to several decades, although most patients do not survive past the age of three.
There is currently no known cure for triple x syndrome. However, there are a number of supportive treatments available to patients. These can include bone grafts and corrective surgeries in some cases.
The symptoms can sometimes be managed with physical therapy, pain medication and other treatments.
It is important to note that having three copies of the genes in question does not necessarily mean someone will have triple x syndrome. Most people have two copies of the genes and do not have any symptoms of the syndrome. Having three copies is what leads to the actual syndrome.
There are also a number of myths about the causes of triple x syndrome. While it is true that most cases of triple x syndrome are due to the mother being older, this is not necessarily always the case. The syndrome does have a higher incidence in older mothers, but it can also occur in women in their teens and twenties.
In addition, triple x syndrome is not necessarily more common in females. About half of all cases are male, and it is possible for triple x syndrome to occur in children of either gender.
The treatment approach for triple x syndrome is highly individualized, and will vary significantly from patient to patient. In some cases, no treatment may be necessary.
Corticosteroids, such as prednisone, may be used to help with some of the inflammatory issues that result from having an extra copy of the X chromosome.
Pain management is very important in treating many of the symptoms of triple x syndrome. Patients may be given intravenous pain medication or, if they have issues with swallowing, pain medication in liquid or pill form. Some patients may even require pain medication via a spinal tap.
Physical therapy is also a very important part of treating triple x syndrome, especially for patients who have limited mobility. A physical therapist can work with the patient to preserve their muscle mass and strength as well as help with things such as walking.
Occupational therapy is also beneficial in treating some of the symptoms of triple x syndrome. This can include working with the patient to come up with strategies to help them with issues such as writing when they have hand and finger mobility issues or working on activities of daily living.
Specially trained medical equipment can also help patients function in their day to day lives. This can include things such as wheelchairs or oxygen.
Surgery is another option that may be pursued in some cases of triple x syndrome. This will depend on the symptoms and the patient’s overall health as well as the recommendation of their medical team. Some patients may undergo surgery to correct issues with their hands, feet or spine.
Feeding tubes may be used in some cases to help a patient receive the nutrients they need. A gastrostomy tube, for example, can be placed through the abdomen to allow for easy access to nutrients.
Other supportive treatments may include bone grafts or transplants. This would be necessary in cases where the bones have been weakened for example due to rickets.
There is no cure for triple x syndrome, but there are ways to treat and manage many of the symptoms and conditions that can arise as a result. A team approach to treating the patient is important, with input from a variety of medical specialists.
Living with triple x syndrome can be difficult. Many of the symptoms are present from birth and can be life-long. Patients and their families need a great deal of support, which the medical community should strive to provide.
The outlook for patients with triple x syndrome has improved in recent years due to advances in technology and treatment options. People with triple x syndrome can and do lead productive, satisfying lives when given the proper treatment and opportunity.
Reviewed by faculty and staff at the University of Illinois at Chicago School of Rehabilitation Therapy.
Sources & references used in this article:
- Triple X syndrome: a review of the literature (M Otter, CTRM Schrander-Stumpel… – European Journal of …, 2010 – nature.com)
- The triple-X syndrome (AW Johnston, MA Ferguson-Smith… – British Medical …, 1961 – ncbi.nlm.nih.gov)
- Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders (R Goswami, D Goswami, M Kabra, N Gupta, S Dubey… – Fertility and sterility, 2003 – Elsevier)