What is Triple X Syndrome?
Triple X Syndrome is also known as triplo-X, XXX syndrome, 47, XXX aneuploidy or Trisomy X and it is mainly due to an extra x- chromosome, which is an abnormal thing. Chromosomes are described to have a rod like kind of structure and are normally present in the cellular nucleus found in the person’s body.
It is where the genetic information is stored. Females are usually the only ones affected by this kind of disease syndrome. It is usually the result of the formation of the father’s sperm cell or the mother’s egg cell. It is caused by an error upon the embryo’s developmental stage. It is a rare genetic problem occurrence, which occurs in approximately 1 in every 1,000 of the female population. It is not easily diagnosed until reaching later in life.
Triple X Syndrome Symptoms and Signs
Female persons, who have been diagnosed with triple x syndrome, manifest the following signs and signs and symptoms:
- Tall stature
- Epicanthal fold or to vertical skin folds that may cover the eyes’ inner corners
- Weak muscle tone
- Delayed development of motor skills such as language and speech
- Learning difficulties like dyslexia
- Proportionately smaller head size or microcephaly
- Enamel Hypoplasia
- Small mandible
- Low weight in comparison with their height
- Mental retardation
- Ovarian failure
- Posteriorly rotated ears
- Weak muscle tone
- Menstrual irregularities
- Having difficulty with interpersonal relationships
- Increased width between the persons eyes
- The signs and symptoms mentioned above, varies from one person to another.
Triple X Syndrome Causes & Risk Factors
The genes are a basic part of the person’s whole existence, it is the one who decides its environmental behavior, how it survives and what the entire human is like. It will decide your physical features, your disease, your passions, and your gender. The genes are found in the DNA which is also called as the human chromosomes.
Normally, a person has 23 chromosomal pair or otherwise known as the sex chromosomes which will have the final say of what the person gender would be. Female babies usually have XX chromosome pair while Male babies have XY chromosome pairs. Both babies’ mother and the father contribute to the chromosomal pair and to their gender. The father can contribute the X or Y chromosome while the mother can only contribute the X chromosome. Babies or individual persons who have the triple x syndrome it may be due to:
- Mosaic form of triple x syndrome or there is an error in the embryo development. The error happens after the egg and the sperm is fertilized and before the development of the embryo.
- Nondisjunction or either the mother’s egg or the father’s sperm was not properly formed. It occurs in the sperm cell or egg cell production, wherein there is a cellular division error which occurs randomly.
One must take note that this kind of disease syndrome is not due to an inherited condition. It happens in the rarest occurrence. And it only happens with females. As mentioned, another name for this disease syndrome is 47, XXX syndrome due to the fact that the person has an extra X chromosome which resulted to the 47 chromosomes, which should be normally 46 chromosomes.
Triple X Syndrome Diagnosis
The triple x syndrome is usually diagnosed before the delivery of the baby and it is dune through:
- CVS or Chorionic Villus Sampling – It is a diagnostic test that is done between the 8th and 10th week of the pregnancy period. What happens in this diagnostic test is that the baby’s tissue is taken from his or her placenta’s villi and will be examined further to test for either positivity of this kind of disease syndrome.
- Amniocentesis – What happens here is that the amniotic fluid, where the baby, embryo or fetus floats, is collected and further examined.
- Blood Test – This is done if the physician notices, upon physical assessment, physical developmental delays.
- Genetic testing called Karyotyping – This is done to detect if really the female person has the extra X chromosome.
Triple X Syndrome Treatment
The treatment, which is usually based on the person’s symptoms, with female persons that have the triple x syndrome, will depend on the needs of the female person such as:
- Physical therapy
- Developmental therapy
- Occupational therapy
- Speech therapy
- Psychological therapy or counseling
- Supportive therapy
Triple X Syndrome Prognosis
The prognosis of persons diagnosed with triple x syndrome is good if they have parents who support them and love them unconditionally. In addition to that, compared to other genetic conditions or problems, the triple x syndrome is a manageable disease condition which is why the person has a good prognosis.They have normal life expectancy. They often have to undergo speech therapy or acquire additional help from professional health workers to help them complete their academic stages. If some female are living as normal as possible wherein they are able to have their own families, they marry and some join the work force, still some females who have this disease syndrome have difficulty dealing with other persons.
Triple X Syndrome Complications
Female who were diagnosed with triple x syndrome leads to learning difficulties and delayed development which will lead to numerous issues such as stress, academic problems, poor socialization which leads to social isolation. Other complications include:
- Seizure – Girls of female babies with this syndrome are typical to develop seizure disorder.
- Kidney abnormalities - Females having this syndrome may have one kidney or abnormal development of their kidneys.
- Premature ovarian failure or abnormalities in the ovaries - The female babies or women who have this disease syndrome may experience that their ovaries have halted working before menopausal stage which leads to the decrease hormonal production and ovulation proper doesn’t occur anymore which can cause infertility. Also, some of the women having this disease syndrome have malformation of their ovaries.