What is Triple X Syndrome: Causes, Symptoms, Treatment, Diagnosis

What is Triple X Syndrome?

Triple X Syndrome which is also known by the name Trisomy X is a genetic pathological condition found only in females where they tend to have three X chromosomes instead of the two which is the norm for each cell. This condition is said to affect one in a thousand girls.

In most of the cases of Triple X Syndrome, there are no symptoms to speak of whereas in some cases there are significant symptoms to include developmental delays and learning disorders.

There is no cure for Triple X Syndrome, but the treatment is basically symptomatic and depends on the severity of the symptoms. Females with Triple X Syndrome tend to not have any effect in their ability to bear children and have a normal sexual development.

What is Triple X Syndrome?

What Are The Causes of Triple X Syndrome?

Researchers have still not come up with a precise reason as to why some females tend to have three X chromosomes apart from a random cell division. This error in division can happen at the time of conception or early during the pregnancy.

In most cases, the egg or the sperm may be responsible for this irregular cell division causing an extra chromosome resulting in Triple X Syndrome. There is yet another form of cell division which takes place during embryonic development in which due to some random cell error, some cells will have the normal two X chromosomes but some cells will have 3 X chromosomes resulting in a mosaic form of Triple X Syndrome.

What Are The Symptoms of Triple X Syndrome?

The symptoms are significantly variable in girls and women with Triple X Syndrome. While some females may not experience any significant symptoms from Triple X Syndrome there may be some females who may experience learning difficulties and developmental delays due to Triple X Syndrome.

Some of the Common Symptoms of Triple X Syndrome are:

  • Long legs than average
  • Developmental delays
  • Learning disabilities
  • Problems with fine and gross motor skills
  • Hypotonia
  • Behavioral disturbances
  • Ovarian abnormalities in some cases
  • Menstrual irregularities in some cases
  • Infertility in some cases
  • Abdominal pain
  • Seizures ion rare cases
  • Renal dysfunction
  • Frequent urinary tract infections

How is Triple X Syndrome Diagnosed?

The diagnosis of Triple X Syndrome may be difficult because in most of the cases the females may be completely asymptomatic with normal appearance and even if the symptoms develop they are quite vague and do not point in any way to a chromosome abnormality.

Thus, Triple X Syndrome may be diagnosed as an incidental finding when the female is being examined to rule out some other condition. Chromosome analysis is the best way to diagnose Triple X Syndrome as it will clearly show the female to have 3 X chromosomes instead of the normal 2.

How is Triple X Syndrome Treated?

There is no cure for Triple X Syndrome and hence the treatment is basically symptomatic. The treatment options for Triple X Syndrome are basically periodic screening for intellectual abilities, developmental delays, and learning disabilities will be required throughout the childhood of the patient. If any of these are found then necessary therapy will be started for treatment of those.

The treatment of such disabilities may require intervention from multiple specialties like speech and language therapy, special education specialist, physical therapist and the like.

The child will also require assistance in education as she may be slow in comparison to her peers in understanding and completing tasks and thus special attention will need to be paid for such girls as they may easily become depressed or isolated due to their condition.

Periodic counseling sessions should be held for such children for both emotional and educational support so that they can cope up with the abnormality that they are dealing with and to be able to cope up with the behavioral outbursts that they may have as a result of Triple X Syndrome.

It is also important for the parents to provide ample amount of support and encouragement for the child so that the child feels wanted and loved which may help a long way in the girl achieving the goals that she aims for despite suffering from Triple X Syndrome.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:August 28, 2017

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