Triple X Syndrome

Triple X syndrome is a genetic disorder that affects only females. It affects about 1 in 1,000 females. Females generally have two X chromosomes but in this disorder they have three X chromosomes. 

The additional X chromosome is mostly formed by random error, caused when the parent’s egg or sperm cell is getting developed. In some cases, only a few of the cells in the body contain the extra X chromosome. This is known as mosaicism.

Triple X syndrome is also known as trisomy X. This condition which only affects women is not mostly inherited. However, there is some evidence that proves that there is a link between occurrence of triple X and maternal age (women who are older while giving birth to their child).

Many females do not experience any symptoms or very mild symptoms but others may have pronounced effects like developmental delays and certain disabilities. Treatment depends on the severity of the symptoms.

Such females have normal sexual characteristics and are able to have children.

Treatment for triple X syndrome varies depending the symptoms, if any are present, and their intensity.

Even though triple X syndrome is a rare condition that affects women, it may not be as rare as seen by the statistics. Since many women with this condition experience very mild signs and symptoms, and sometimes no symptoms, it is possible that only 10% of the cases are actually diagnosed and registered. The actual number of women suffering from this condition may be higher.

Before visiting the doctor, it is important to be well prepared for the appointment. It is best to take someone along as they can take notes and remember things that the doctor explains. 

Before your visit

Before going for the appointment, make a note of the following:

• Any symptoms noticed in the child, including any symptoms that may not seem to be related to the cause of the appointment
• The development milestones of the child. When did she learn to talk and walk?
• Important information about pregnancy, which may include if the mother suffered from some major illness during pregnancy, medications taken to treat any illnesses, etc.
• Any issues the child is having, such as learning, emotional, behavioral

What to ask your doctor

You should ask the following questions:

• What is the cause of the symptoms my daughter is suffering from?
• Are there any tests to be done?
• Is any special preparation required for these tests?
• How will this condition affect my child’s future?
• What are the treatment options available?
• Will there be any side effects to these treatments?
• My child has some other health issues. How can both conditions be managed together?
• What kinds of services are available if my child suffers from learning problems or slow development?
• Where can I find more information about this condition? Do you know of any support groups?

Don’t shy away from asking questions.

What to expect from your doctor

The doctor will also ask some questions to understand the medical history of the child and her family.

Some examples include:

• When were the first symptoms noticed in your child?
• Does anything improve the symptoms in any way?
• Does anything worsen the symptoms?
• Did your child reach development milestones on time or were there any delays?
• Does your daughter have any problems in school or any other environment?
• Does your child suffer from any other health problems?
• What medications does your child currently take?

Signs and symptoms of triple X syndrome can vary. Some experience no symptoms and others may experience mild symptoms.

Occasionally significant symptoms may occur, such as:

• Taller than average height with long legs
• Delayed development of speech, language skills and motor skills
• Learning disabilities
• Problems with fine and gross motor skills
• Poor cognitive development; weak muscle tone
• Abnormally curved pinky fingers
• Vertical folds that cover inner corners of eyes
• Behavioral and emotional problems

Occasionally, some of the following signs and symptoms may occur:

• Premature ovarian failure
• Infertility, early or late puberty
• Constipation
• Abdominal pain
• Seizures
• Kidney abnormalities
• Flat feet and heart abnormalities

Even though triple X syndrome is a genetic problem, it is not mostly inherited. It occurs due to a random genetic error. In normal cases, individuals possess 46 chromosomes in every cell, which is organized into 23 pairs. This consists of two sex chromosomes; one set belongs to the mother and the other to the father. There are genes present in these chromosomes which possess the instructions that determine height, eye color, etc.

The sex of the child is determined from the pair of sex chromosomes which is either XX or XY. The mother can only provide the X chromosome, but the father can provide either X or Y chromosome.

When the child receives the X chromosome from the father, then the pair of XX chromosomes will make the child’s sex female.

When the child receives the Y chromosome from the father, then the XY chromosome pair will make the child’s sex male.

The triple X syndrome error can take place much before conception or in the early stage of embryo development, which will lead to any one form of triple X syndrome:

1. Nondisjunction: Mostly, it is the mother’s egg cell or father’s sperm cell that divided incorrectly, leading to an additional X chromosome in the baby. The child will have an additional chromosome in all the cells of the body.
2. Mosaic: Rarely, the additional chromosome is formed due to an error in cell division which occurs in the initial stage of embryo development. In such a scenario, the child will possess a mosaic form of triple X syndrome. And in this condition, only some cells in the body will have the additional X chromosome. So women with the mosaic type of triple X syndrome may have very mild or no symptoms.

Many girls with triple X syndrome are healthy and do not experience any symptoms; therefore, they remain undiagnosed.

Triple X syndrome diagnosis can be confirmed by genetic testing, in which the chromosomes are analyzed in a blood sample. Before genetic testing, genetic counselling is important to get more information about the disorder.

There is no treatment available for the chromosome error that causes triple X syndrome. This condition has no cure.

Treatment is symptom-based and aims to help the patient’s quality of life.

Some of the treatment options are:

• Periodic screening: The doctor will suggest periodic screening of a girl suffering from triple X syndrome. This way, if there are any problems like slow development, learning disabilities, or any other health problems, they can be diagnosed in the initial stages and treated promptly.
• Early intervention services: These services consist of speech, physical, or development therapy which are provided in the early phases of life or as soon as need arises.
• Educational assistance: If the patient has any learning problems, she can be provided with educational assistance to learn unique strategies and techniques to keep up with studies in school and everyday life.
• Support and counselling: Girls who suffer from this syndrome may be anxious and may suffer from some behavioral and emotional problems. Ensure they are provided with sufficient support and care. Psychological counselling may be beneficial to the family and loved ones, as this will educate them on how to provide love, support, and encouragement and to avoid any behavior that can demotivate the child.
• Assistance and support: If the patient is suffering from slow development due to this syndrome, then she should be provided with assistance and support to carry out daily activities.

No preventive measure are available for triple X syndrome.

It is possible for your child to lead a normal life like other children, but is important to provide them with the required amount of support.

1. Connect with support groups: These groups provide information and support to those who suffer from chromosomal disorders. The support is given to the entire family. They provide a lot of useful information and suggestions on how to cope with different situations. Look online or ask your doctor to find a support group nearest you.
2. Support for disability: A learning disability can be a challenging task to cope with. One can look for information within support services for such disabilities.
3. Look for ways to reduce stress: Triple X syndrome can create anxiety and stress in the child. Encourage children to talk to their family or friends about their issues as this will help provide some relief from stress. Children must try and engage in activities that make them happy, like watching movies, listening to music, walking, etc. Such activities will divert their mind and reduce stress. One can also seek help of caregivers if necessary.

There are several risks and complications associated with triple X syndrome, which include:

• Developmental delays
• Learning disabilities
• Developing various issues (problems at work, school and in society, behavioral problems, poor self-esteem)
• Anxiety and emotional problems