triple x syndrome

Know about triple x syndrome’s interesting facts

There are several rare genetic conditions noted in individuals all across the world. The triple x syndrome is one such genetic condition where the woman is born with an additional x chromosome. Unlike many other genetic disorders, this syndrome tends to have mild and even unnoticeable syndromes in most cases. There are women who have gone through their life in a mostly healthy manner without knowing that they have this condition.

And this is just one of the facts that makes this syndrome so interesting to know about. Read on to know the rest of the details.

1. It is a rare genetic condition

Triple x syndrome, also known as trisomy X syndrome, is a highly rare genetic condition that impacts only females. In this case, a chromosome has three copies. Human beings are typically born with a total of 46 chromosomes, which are present in 23 pairs.

The 23rd pair is the sex chromosome. A male has an X and an Y chromosome, whereas a female has two X chromosomes. However, when a female has this condition, they have an extra X chromosome. So, they have a total of 47 chromosomes. One in every 1000 women are born with this condition.

2. Error in chromosome replication

The triple x condition is not typically inherited from the affected parent. A majority of cases are brought on by any error in chromosome division and replication during the sperm cell or egg formation. There is no specific cause because it occurs totally by chance.

It is noted that women who conceive at an age higher than 35 years tend to be at a greater risk to have daughters with this syndrome. At times, individuals get cells with an additional X chromosome due to random changes that take place at the time of embryonic cell division.

3. The symptoms are varied

Triple x does not have any specific set of symptoms. In fact, the symptoms are either mild or absent in many cases. So, the individuals do not even experience anything all their life. The most common symptoms are noticed in the physical characteristics, such as:

  • hypertelorism (wide-spaced eyes)
  • epicanthal folds (vertical skin folds covering the inner eye corners)
  • clinodactyly (bent or curved little fingers)
  • hypotonia (poor muscle tone)

In certain cases, medical issues like the following might arise:

  • Genito-urinary malfunctions or deformities where the kidneys and/or ovaries might be malformed
  • Premature ovarian failure: Early failure or dysfunction of the ovaries that can be related to fertility problems.
  • Heart structural differences
  • Seizures
  • Autoimmune conditions like hypothyroidism

Women with this syndrome can also face the given cognitive problems:

  • learning disabilities
  • mood disorders
  • attention deficit disorder
  • developmental delays

4. Prenatal diagnosis of triple x

Prenatal testing is the most common way to detect the triple x syndrome. Genetic testing can be done even after the birth of the baby to confirm the presence of this syndrome. Any developmental delay in children is typically the sign of this disorder. Certain facial features are also an indication that the female has this condition.

If the doctor asks for genetic testing, they will take your blood sample for this purpose. Some of the tests they can order are:

  • Prenatal genetic testing
  • Karyotype or chromosomal microarray

In many cases, the women remain undiagnosed when they show no external symptoms or developmental issues.

5. Triple x syndrome has no cure

This syndrome has no cure as of yet. However, the treatment can be offered based on the specific symptoms of the individual. A host of added screening tests might be necessary not to confuse the syndrome with any other condition. So, the doctors might suggest the following tests:

  • renal ultrasound
  • physical therapy
  • echocardiogram
  • neuropsychological testing

Pediatricians monitor the girls with this disorder to assess their developmental progress. Some of the patients with this condition might need estrogen therapy. Early treatment is essential to avoid developmental delays, such as delayed motor skills or language acquisition, in girls.

6. Prognosis for the disorder

Keep in mind that there is no way available at present to prevent this syndrome. Prenatal genetic testing and counseling, especially for women who are at an advanced maternal age, are good ways to know whether the pregnancy has a high chance of the disorder.

Many women with this syndrome do not even have any symptoms. They can live normal lives with no sexual or fertility issues. Even if there are any developmental delays, regular check-ups and constant monitoring can help in overcoming most of the problems.

If there are mental health issues related to anxiety and depression, timely psychological counseling can help in addressing all those problems. As mentioned before, it is hard to point out a specific list of symptoms. Thus, each patient needs to undergo a complete evaluation for proper determination of their specific medical requirements.

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