Trisomy X or 47, XXX, or simply triple X syndrome is an abnormality of chromosomes found only in females. Females inherit two X chromosomes for every cell in their body – one each from their mother and father. But, in this condition, females have an extra chromosome in every cell, making their chromosome count three instead of two. The extra chromosome is not passed on from either parent and is a natural irregularity.
The presence of an additional chromosome itself does not cause any medical problems in the female body. Although, it can give rise to physical and mental anomalies that might be troublesome in varying degrees. On average, the syndrome has mild to no symptoms in maximum females; but some might face severe symptoms. Triple X syndrome symptoms can also vary from one female to another, making identification and diagnosis difficult.
Nearly 1 out of every 1,000 women and girls are affected by trisomy X. Studies conducted in 2013 showed that 3.5 million females worldwide have cells containing three chromosomes. Furthermore, estimates show that only 10% of females affected by the syndrome are diagnosed. Researchers claim that the asymptomatic pattern of this condition makes the rest (approximately 90%) go unreported and undiagnosed.
Symptoms of Triple X Syndrome
The triple X syndrome has signs and symptoms whose severity varies from one female to another. Some face no effects; others may experience mild symptoms that go unnoticed or severe symptoms that prove difficult to handle. It can cause abnormalities related to physique, intellect, and behavior.
One of the most common physical attributes of a female having triple X syndrome is height. Girls with triple X syndrome are generally taller than the average height of their parents or peers. Other physical features include:
- Wide-spaced eyes
- Fragile muscle tone
- Bent pinky fingers
- Epicanthal folds (vertical folds of skin covering the inner corners of the eyes)
- Smaller head
Some medical issues that can be considered significant signs and arise due to triple X syndrome are:
- Premature failure or dysfunction of the ovaries
- Seizures
- Heart problems
- Higher risk of UTIs
- Autoimmune disorders like hyperthyroidism
Besides the above-mentioned triple X syndrome symptoms, some females also experience developmental difficulties. These issues related to the development of their body, psyche, and cognition include:
- Delayed speech and learning abilities
- Problems in motor skill development, such as walking
- Susceptibility towards anxiety and depression
- Attention Deficit Disorder/ADHD
- Slightly lower IQ, ranging 20 points lower than siblings or girls of their age
All the stated signs and symptoms might be due to triple X syndrome, but it is not certain. They can also affect a female for other reasons. Thus, it is best to consult a doctor if you observe any of the above signs.
Causes & Diagnosis
The disorder of triple X syndrome is genetic. Chromosomes contain genes and are responsible for every feature of a child, starting from gender, skin color to height. Females have two X chromosomes; thus, an embryo develops into a girl after receiving an X chromosome from the father. For females with the syndrome, a random irregularity in cell division occurs in the early stages of embryo growth. The irregularity could also develop before conception, causing the addition of a third X chromosome in the cell.
Triple X syndrome can branch into two forms – Nondisjunction and Mosaic. Nondisjunction is when every cell in the child’s body contains an extra X chromosome. The condition occurs due to the incorrect division of the mother’s egg or the father’s sperm cell. Only certain cells in the child’s body have an added X chromosome in the mosaic form of the disorder. It is the consequence of incorrect cell division during the early stage of embryo development. Females with the mosaic type of triple X syndrome generally experience mild to no symptoms.
Most cases of triple X syndrome remain undiagnosed for life with no options to prevent it either. To diagnose if a female baby has trisomy X, genetic testing (testing blood samples) can be done after its birth. Triple X syndrome can also be determined before birth using prenatal genetic testing like chorionic villus sampling (CVS) or amniocentesis. These procedures examine the cells and tissues of a fetus to determine the presence of the triple X syndrome symptoms.
How to treat Triple X Syndrome?
Triple X syndrome neither has prevention nor a cure. There is no technique for removing the extra chromosome. Only the individual symptoms and medical issues arising from the syndrome can be treated by a doctor. The psychological and developmental adversities can be coped with using extra support, like therapy and counseling, early in life.
Conclusion
Despite the widespread unawareness, 47, XXX is a common disorder in females. The absence of proper symptoms and knowledge furthers this problem and most affected females are unaware they have it. Thus, the best way to understand and deal with this problem is to check for the triple X syndrome symptoms. If detected and confirmed, you must consult a healthcare specialist regarding specific health conditions you might be facing.
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