HomePediatricianXXX Chromosome Disorder or Triple X Syndrome

XXX Chromosome Disorder or Triple X Syndrome

What is Triple X Syndrome?

A chromosomal condition that goes by the name of “Triple X Syndrome” or “XXX Syndrome Disorder” has the potential to affect only one female out of thousands. Usually, a female is born with one pair of X chromosomes in every cell – One X chromosome from each parent. However, a female with the XXX Chromosome Disorder has 3 X chromosomes in every cell. 

The reports and research by the National Institute of Health suggest that nearly 5 to 10 females are born with this disorder in the United States of America.

The XXX chromosome disorder has been proven to be genetic, but it is not an inherited condition. It occurs due to a random error in the genes and does not transfer from the parents to the child. 

This genetic error can happen during conception or even at the early stage of embryo development. There are many other reasons as well that may cause this disorder. 

What are the Causes of XXX Chromosome Disorder?

  • Nondisjunction – Incorrect division of the egg cell of the mother or the sperm cell of the father, resulting in an extra X chromosome in the child. If this error occurs, all the cells in the body of the child will have an extra X chromosome.
  • Mosaic – Incorrect cell division triggered by a random event in the early stage of embryo development, resulting in an extra X chromosome in the child. If this error occurs, only a few cells in the body of the child will have the third X chromosome.

Symptoms of Triple X Syndrome

The signs and symptoms of Triple X Syndrome differ from one woman to the other. In some, there are no symptoms at all, while some might show moderate to severe symptoms.

If symptoms surface, they might include the following:

  • Difficulties in information processing and judgment. 
  • Issues with gross and fine motor skills. 
  • Delayed language and speech skills. 
  • Dyslexia (difficulty reading and understanding). 
  • Poor coordination. 
  • Clumsiness. 
  • Taller than average height. 
  • Smaller than average head size. 
  • Attention Deficit Hyperactivity Disorder (ADHD). 
  • Psychological problems, such as depression and anxiousness.

Some lesser-known symptoms of XXX chromosome disorder may also include: 

  • Wide space between eyes.
  • Flat feet.
  • An abnormally curved little finger.
  • Hypotonia (weak muscle tone).
  • Epicanthal folds of the skin (a vertical fold of the upper eyelid covering the eye’s inner corner).
  • Seizures.
  • Abnormal shape of the breast bone.
  • Abnormalities of ovaries.
  • Untimely ovarian failure.
  • Kidney deformities.
  • Developmental delays.

Also, in most women with the Super Female Syndrome, sexual development is normal, and they can conceive. In rare cases, reproductive abnormalities, such as early menstruation, irregularities in periods, etc., can arise. Very rarely, infertility may be seen. A person with this chromosome disorder does not look different from people who do not have this condition. 

When to consult a doctor?

If you feel that something is wrong with your daughter’s health, restricting her growth and development, you should get in touch with a doctor. Your doctor will assess her condition, find the causes, and recommend a suitable treatment plan.

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Complications Caused by Triple X Syndrome

Females who experience developmental, psychological, or behavioral issues due to Triple X Syndrome need help in the form of medical or social intervention. Without timely help, these issues can further complicate to more severe problems, such as –

  • Lack of self-esteem
  • Relationship issues
  • Excessive stress
  • Social acceptance problems
  • Social isolation
  • Inability to do daily activities

Diagnosis of Triple X Syndrome

Many women and girls with Triple X Syndrome do not show any outward signs. They live healthy lives that is why many cases go undetected. Genetic testing can diagnose Triple X Syndrome. This testing can be done by taking a blood sample after birth. Genetic testing can also be performed before birth by more sophisticated tests such as amniocentesis and chorionic villus sampling, which analyze the tissues and cells of a fetus.

Treatment of Triple X Syndrome

As Triple X Syndrome is a chromosomal defect, there is no definite cure for it. The treatment plans depend on symptoms, their severity, and unique requirements. A few of the treatment options include –

  • Periodic examinations – The doctor may suggest regular screenings. It will allow them to provide you with immediate help, if any health problem, learning difficulties, developmental or behavioral abnormalities arise at any point in time.
  • Early intervention – These treatment plans comprise different types of therapies, such as speech therapy, physical exercises, developmental therapies, and occupational therapies, among others. Your doctor will start with the intervention sessions as soon as he/she can diagnose your problems. Generally, these treatments start at a very young age.
  • Creative learning therapies – If the girl has issues with learning and understanding, your doctor will use various educational and innovative learning strategies.
  • Psychological counseling – Females with Triple X Syndrome are more susceptible to stress, anxiety, emotional, as well as behavioral problems. Therefore, a supportive environment at home is crucial. In this regard, your doctor might recommend psychological counseling. It can help families to understand how you can help their child by providing the right environment to grow while positively shaping her learning skills and social functioning.
  • Daily assistance – If the girl is facing issues with daily functioning, assistance with such activities, coupled with social opportunities, will help her a lot.

Frequently Asked Questions:

What is the life expectancy of a person with Triple X Syndrome?

This condition does not affect the life expectancy of a person. So, most people with Triple X Syndrome will have the same life expectancy as a person who does not have this chromosomal disorder.

What is Metafemale syndrome?

XXX syndrome is also known as Metafemale syndrome, in which your cells have three X chromosomes instead of two

How does triple X syndrome affect our Body?

The triple X syndrome affects females in different ways. They are:

  • Delay in the development of motor skills
  • Delay in developing language and speech skills
  • Problems with learning
  • Dyslexia (problems with understanding things, reading) 

How long do the symptoms of triple X syndrome disease take to appear?

A majority of females with XXX syndrome are quite healthy with no apparent signs and symptoms of the disease. Therefore, in some cases, this disorder goes unnoticed or undiagnosed, or it is detected only when you go to your doctor for other health issues.

In most cases, this condition comes to light when the parents of such female children notice problems with their child’s growth and development. According to research, early detection followed by early intervention can improve the symptoms.

How can we control the triple X syndrome from spreading?

The triple X syndrome occurs due to a random malfunction when the cells divide, and a girl child receives three X chromosomes (XXX) instead of two (XX). If your daughter has XXX trisomy, it is crucial to understand that you could not have prevented it. Currently, there are no ways to prevent this condition. If you have a high-risk pregnancy, you should opt for prenatal genetic testing.

References:

https://www.askapollo.com/physical-appointment/paediatric-neurologist
https://www.apollohospitals.com/patient-care/health-and-lifestyle/understanding-investigations/mri

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Verified By Dr Ranjit Kumar Joshi
MBBS, MD (Paediatrics), Fellow IAP (Neonatology), Senior Consultant -PAEDIATRICS, Apollo Hospitals, Bhubaneshwar

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