What Is Triple X Syndrome? Symptoms, Causes, Diagnosis, Treatment, and Prevention

Women with an extra X chromosome in their cells may show no symptoms of this condition.

Triple X syndrome – also called XXX syndrome, trisomy X, or 47, XXX aneuploidy – is a genetic condition in which a woman carries an extra X chromosome in each of her cells.

Generally, females have two X chromosomes in each cell, and males have one X and one Y.

But in Triple X Syndrome, as its name suggests, there are three X chromosomes.

Sometimes some of the body cells have extra X chromosomes, a form of triple X syndrome called musculoskeletal.

Although it is a genetic disorder, Triple X Syndrome (which only affects women) is not usually inherited.

However, there is some evidence that the incidence of triple X increases with maternal age (ie, women who are older at birth).

The extra X chromosome usually results in a random error when the parent egg or sperm is produced.

In mosaic, the defect occurs during cell division at the beginning of fetal development.

How Common Is Triple X Syndrome?

Although triple X syndrome is rare, it will not be as low as the numbers suggest.

According to most statistics, Triple X occurs in one out of every 1,000 women born, which means that five to 10 women are born with Triple X Syndrome every day in the United States.

But since many girls and women show no or very mild symptoms of Triple X, some researchers estimate that only 10% of cases are diagnosed and the actual number is higher.

Signs and Symptoms of Triple X Syndrome

While the symptoms and physical characteristics associated with Triple X Syndrome vary widely between girls and women – with no symptoms or abnormal physical features – tall is the most common feature.

Other physical, developmental, and behavioral characteristics associated with Triple X Syndrome include:

Layers of skin covering the inner corners of the eyes
Wide spacing between eyes
Low muscle tone (hypotonia)
Curved Fifth (“Pink”) Fingers (Clintoctelli)
Small head circumambulation
Average weight loss
Learning disabilities, such as speech and language delays, and reading difficulties
Delayed motor skills, such as sitting and walking
Difficulty processing voice
Behavioral and emotional disorders, including attention deficit hyperactivity disorder (ADHD), anxiety and depression
Premature ovarian failure or uterine failure (although infertility is rare)
Menstrual irregularities
Constipation or abdominal pain
Flat toe
Slight consumption of breast bone
In the mosaic form of Triple X Syndrome, fewer cells have extra X chromosomes, so the symptoms and features are milder when they are present.

Seizures or kidney abnormalities (such as a kidney, or a malformed body) are possible in Triple X, but rarely – they appear in about 10% of cases.

Most girls and women with Triple X Syndrome generally have normal intelligence, but according to the National Organization for Rare Disorders (NRD), IQ scores, especially oral scores, in siblings or control groups 10 to 15 points less. , Especially if learning disabilities are not addressed quickly.

Abnormalities of the heart were noted in some isolated cases, according to the NRD.

How Is Triple X Syndrome Diagnosed?

Triple X syndrome can be diagnosed early, including CVS (Corinthian Wells Sampling, in which tissue samples are taken from the umbilical cord) or immunosuppression.

The condition can also be detected by a blood test after birth if developmental delays, muscle breakdowns, or other physical characteristics associated with Triple X make a doctor suspicious.

Treatment and Medication Options for Triple X Syndrome

Although extra X chromosomes can certainly never be removed, early intervention, such as speech or physical therapy, can help, as well as counseling girls after entering middle school and adolescence.

Skin screening is recommended for kidney and heart abnormalities, although rare in Triple X, it is also recommended.

Women who experience late periods, menstrual abnormalities, or who have difficulty conceiving should be screened for primary ovarian failure.

What Is Triple X Syndrome?
What Is Triple X Syndrome?

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