Triple X Syndrome is a significantly rare genetic condition where females are born with XXX chromosomes. This condition is generally prevalent in females and is usually passed down from a parent. In some cases, it might also happen spontaneously.
Females diagnosed with Triple X syndrome might or might not have any symptoms. Sometimes, they would not know that they have this condition. The prevalent symptoms generally include height and fertility issues amongst females. However, one must remember that triple X syndrome is not curable.
Triple X Syndrome: What is it?
This rare genetic condition is found only in females who have three copies of X chromosomes. Both males and females are born with a total of 46 chromosomes, each arranged in a pair. Each of the pairs consists of a mother copy and a father copy.
The 23rd pair of chromosomes is known as the sex chromosomes. Usually, females are born with two X chromosomes, whereas males have one X and a Y chromosome. Since females already have two X chromosomes, they might also have an extra X chromosome in rare cases. It results in a total of 47 chromosomes.
The condition of having XXX chromosomes is known as triple X syndrome. Females diagnosed with this condition have three X chromosomes within their cells. However, in some females, some cells have three X chromosomes while others usually have two chromosomes. This condition is referred to as mosaicism.
Causes of Triple X Syndrome
This genetic disorder is caused because of the presence of an extra X chromosome in females. Usually, it is not inherited from any affected parent but happens due to some chromosomal errors.
When an egg or sperm cell is formed, chromosomes are replicated and divided. During this time, the error in chromosomes occurs entirely by chance. Women above 30 years pregnant with a girl child are at an increased risk of delivering a child with XXX syndrome.
Those diagnosed with mosaic triple X syndrome end up having an extra X chromosome during embryonic cell division. It is usually an unexpected change and does not happen because of the advanced age of the pregnancy.
Symptoms of Triple X Syndrome
Girls and women diagnosed with XXX syndrome have a distinctive variation amongst them. While some females experience no symptoms at all, others experience mild symptoms that go unnoticed. Some might have specific characteristics, including medical and psychological problems. All of it is associated with triple X syndrome.
Females who have a higher percentage of cells containing three X chromosomes might have some pronounced symptoms. Nevertheless, a consistent physical characteristic amongst females with XXX chromosomes is that they have a greater height. Usually, they are way taller than their parents.
Other subtly noticeable physical features include:
- Epicanthal Folds: Vertical skin folds covering the inner corners of the eyes
- Hypertelorism: Eyes positioned in the broader space
- Hypotonia: Possessing feeble muscle tone
- Clinodactyly: Bent, curvy, and small fingers
Females might sometimes experience significant medical problems, including:
- Genito-Urinary malfunctions or deformities: Females might have malformed kidneys and ovaries.
- Premature ovarian failure or ageing: Females might experience fertility issues because of ovary failure and dysfunctions.
- Hypothyroidism: Females might end up having some autoimmune conditions.
- Deformities and significant differences in heart structure
- Seizures, etc.
A few females with XXX syndrome might sometimes experience psychological and developmental delays and cognitive problems. It includes:
Females with XXX syndrome mostly remain anxious or depressed.
- Mild intellectual or cognitive impairment
Their IQ usually stays within the normal range. However, they are typically lower by only 10 to 15 points.
- Attention deficit disorder
Girls with XXX syndrome find it quite challenging to concentrate in their school lessons when compared to other girls.
They might find it difficult to learn anything initially. But with time, everything tends to get normal.
For XXX syndrome, females usually have soft muscle tone and acute muscle weakness. It significantly leads to developmental delays in specific motor skills, including walking.
Females with XXX syndrome might face difficulties with social and communication interactions. It happens because they are prone to extremely low self-esteem.
Treatment of Triple X Syndrome
XXX syndrome is not curable and has no treatment. And if there are effective treatments, it entirely depends on the individuals. After having known certain conditions, additional screening tests are required. They include:
- Neuropsychological testing
- Renal ultrasound
- Physical therapy
- Cardiology consultation
- Speech therapy
- Occupational therapy
- EKG or echocardiogram
- Neurology consultation
- Fertility specialist for counselling
Females diagnosed with XXX syndrome might or might not experience mild symptoms. Nevertheless, they are not quite noticeable. They might sometimes develop specific psychological problems, leading to other issues like relationship problems and lower self-esteem.