One in 1,000 females is affected by a health concern known as triple X syndrome. While most females have two X chromosomes – one from each parent – if your wellness is affected by triple X syndrome this means you have, as you may have guessed, three X chromosomes. This is usually due to an error in the formation of your mother’s egg cell or your father’s sperm cell, but sometimes triple X syndrome – also known as trisomy X, triplo X syndrome, XXX syndrome and 47,XXX – impacts your wellbeing as a result of an error occurring early in your embryonic development.
Usually, you have 46 chromosomes that occur in 22 pairs, plus two sex chromosomes, one maternal and one paternal. In these chromosomes, you’ll find the genes that carry the instructions determining everything from your height to your eye colour and, in one of these chromosome pairs, your sex. Your mum gives you an X chromosome but your dad can pass on either an X or a Y chromosome, which determines your sex. If your father passes on an X chromosome, you’re genetically a female with an XX pairing. If you receive a Y chromosome, your XY pair means you’re genetically a male.
If you’re a female with triple X syndrome, you have a third X chromosome, usually because your mother’s egg cell or your father’s sperm cell has not formed the way it should have. This random error in egg or sperm cell division is called non-disjunction and although it’s a genetic condition, it’s typically not inherited. Sometimes, the extra chromosome doesn’t appear until the embryo is in early development, and this is known as the mosaic form of triple X syndrome. When this happens, only some of your body’s cells have the third X chromosome, meaning your symptoms will be less severe.
In most cases, girls and women who have triple X syndrome experience no or mild symptoms. However, some females exhibit more pronounces symptoms, possibly including developmental delays, and this will determine what treatment options are appropriate. If symptoms do appear, they may include:
- Tall stature
- Vertical skinfolds that may cover the inner corners of your eyes (epicanthal folds)
- Delayed development of your speech and language skills
- Weak muscle tone (hypotonia)
- Curved pinky fingers (clinodactyly)
- Behavioural and mental health problems
- Premature ovarian failure or ovary abnormalities
- Constipation or abdominal pains
If you have a daughter and are concerned about her developmental progress, it might be wise to visit her doctor. He or she can help you to determine what may be the cause of these developmental concerns, and therefore can suggest appropriate action. It’s important to seek help as soon as possible, as delayed development could eventually lead to a variety of other issues, including academic problems, stress and poor socialisation skills that cause social isolation. There is also the chance, albeit a slight one, of your daughter developing:
- Premature ovarian failure or ovary abnormalities. Girls and women with triple X syndrome may have malformed ovaries, as well as being at risk of premature ovarian failure. This means their ovaries stop working before the expected age of menopause, which can cause infertility.
- Seizures. Girls and women with triple X syndrome are at risk of developing a seizure disorder.
- Kidney abnormalities. Females born with triple X syndrome may have one kidney or abnormally developed kidneys.
Doctor recommendations for triple X syndrome include periodic screenings throughout childhood, as this enables prompt treatment for any detected developmental delays or learning disabilities. A supportive, stress-free environment and psychological counselling may also be advised, as girls with triple X syndrome may be more susceptible to stress. While there’s no cure for triple X syndrome, the scarcity of symptoms – as well as the condition itself – means that it’s still possible to lead a normal, healthy life.
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