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Triple X syndrome, also known as trisomy X or 47,XXX, is a genetic disorder that affects around one in every 1,000 females. Females typically have two X chromosomes in all cells, one from each father. In a female with triple X syndrome, three X chromosomes are present.
Many girls and women with triple X syndrome have not or have only minimal symptoms. Symptoms may be more visible in others, including developmental delays and learning difficulties. Seizures and kidney problems affect a tiny percentage of triple X syndrome girls and women.
The existence and severity of symptoms determine treatment for triple X syndrome.
WHAT ARE THE SYMPTOMS OF TRIPLE X SYNDROME?
Signs and symptoms of triple X syndrome might vary widely between girls and women. Many people have no visible side effects or only mild symptoms.
The most common physical trait is being taller than average. The majority of girls with triple X syndrome have normal sexual development and the potential to become pregnant. Some girls and women with triple X syndrome have normal IQ, but it may be slightly lower when compared to siblings. Others may have intellectual difficulties as well as behavioral issues.
Significant symptoms, which differ from person to person, may occur on occasion. These signs and symptoms include:
- Speech and language development, as well as motor skills like sitting and walking, are delayed.
- Learning problems, such as difficulties with reading, comprehension, or math
- Behavioral issues such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder symptoms
- Psychological issues, like anxiety and depression
- Fine and gross motor skills, memory, judgment, and information processing issues
Females with triple X syndrome may exhibit the following signs and symptoms:
- Vertical folds of skin that surround the inner corners of the eyes (epicanthal folds)
- Flat feet
- Breastbone with an inward bent form
- Muscle atrophy (hypotonia)
- Seizures
- eyes that are widely spaced
- Pinky fingers that are curved
- Kidney complications
- Young ovaries that do not function correctly (premature ovarian failure)
WHAT ARE THE CAUSES OF TRIPLE X SYNDROME?
Although triple X syndrome is inherited, it is usually caused by a random genetic mistake.
Normally, each cell contains 46 chromosomes grouped into 23 pairs, including two sex chromosomes. The mother provides one set of chromosomes, while the father provides the other. Genes on these chromosomes convey instructions that govern everything from height to eye color.
A child's sex is determined by the pair of sex chromosomes — either XX or XY. A mother can only pass on an X chromosome to her kid, whereas a father can pass on either an X or a Y chromosome:
- If the child inherits one X chromosome from his father, the XX pair determines the child's gender.
- If the child inherits a Y chromosome from his father, the XY pair indicates that he is genetically male.
Females with triple X syndrome have an extra X chromosome as a result of a random cell division defect. This mistake can occur during or during embryo development, resulting in one of three types of triple X syndrome:
- Nondisjunction: In most cases, either the mother's egg cell or the father's sperm cell splits abnormally, resulting in the infant having an extra X chromosome. This random error is known as nondisjunction, and the extra X chromosome will be present in all of the child's cells.
- Mosaic: Sometimes the extra chromosome is created by an erroneous cell division induced by a random occurrence early in the embryo's development. If this is the case, the child has a mosaic version of triple X syndrome, with the extra X chromosome present in only some cells. Females with the mosaic form may show less symptoms.
Because the additional X chromosome results in 47 chromosomes in each cell instead of the typical 46, triple X syndrome is also known as 47,XXX syndrome.
WHAT ARE THE COMPLICATIONS OF TRIPLE X SYNDROME?
Although some females with triple X syndrome have little or no symptoms, others have developmental, psychological, and behavioral disorders that can lead to a range of other problems, including:
- Workplace, school, social, and relationship issues
- Inadequate self-esteem
- Need for more support or aid with learning, everyday life activities, education, or work
HOW IS TRIPLE X SYNDROME DIAGNOSED?
Because many triple X syndrome girls and women are healthy and show no outward indicators of the disorder, they may go untreated their entire lives, or the diagnosis may be discovered when searching for other problems. Prenatal testing to diagnose other genetic abnormalities may potentially reveal Triple X syndrome.
A sample of the mother's blood can be analyzed during pregnancy to determine the baby's DNA. If the test reveals an elevated risk of triple X syndrome, a sample of fluid or tissue from within the womb might be taken. If there is an additional, third X chromosome, genetic testing of the fluid or tissue will reveal it.
If triple X syndrome is suspected after birth based on signs and symptoms, genetic testing can confirm it. Genetic counseling, in addition to genetic testing, can provide you with detailed information regarding triple X syndrome.
WHAT ARE THE TREATMENTS FOR TRIPLE X SYNDROME?
Because the genetic mistake that causes triple X syndrome cannot be repaired, there is no cure for the illness. Treatment is determined by symptoms and needs. Alternatives that may be useful include:
- Periodic screenings: Periodic screenings may be recommended by the health care provider throughout infancy and into maturity. If there are any developmental delays, learning difficulties, or health issues, they can be treated right away.
- Counseling and a supportive environment: Girls and women with triple X syndrome are more likely to have anxiety, as well as behavioral and emotional issues. So make sure your youngster is in a nurturing setting. Psychological treatment can teach you and your family how to show love and encouragement while discouraging behaviors that interfere with learning and social functioning.
- Daily assistance and support: If your child has challenges that interfere with everyday functioning, this aid and support may include assistance with daily living activities, social opportunities, and jobs.
- Early intervention services: Speech, occupational, physical, and developmental therapy may be provided beginning in the first few months of life or as soon as requirements are detected.
- Educational assistance: If your child has a learning problem, educational assistance can be provided to acquire skills and tactics for success in school and in everyday life.