Turner Syndrome

Turner syndrome is a condition associated with a girl’s chromosomes resulting in a short height. Researchers do not exactly know what causes Turner syndrome but they do hold that the condition occurs due to missing or incomplete X chromosomes. The X chromosomes are involved in the body’s growth and sexual development. This is the reason why girls with this condition tend to grow shorter and may have abnormal sexual features.

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Causes

Females have two X chromosomes, which they inherit from their parents. One X chromosome is inherited from the mother while the other X chromosome is passed from the father. When one of the X chromosomes is missing or incomplete, this may lead to Turner syndrome. A process known as ‘nondisjunction’ may occur whereby the pair of sex chromosomes does not separate when eggs or sperms are forming.

An abnormal egg may bond with a normal sperm in the process of forming an embryo. In this situation, you have a person with an embryo, which misses one of the sex chromosomes referred to as X chromosome. Therefore, instead of having XX chromosomes, a girl may have only one X chromosome meaning one sex chromosome. When the embryo begins to grow, the cell division occurs but every cell has a missing X chromosomes.

Turner syndrome is not usually passed from affected parent to a child. This means that a mother may have Turner syndrome and not pass it to child. This is because in the first place, this syndrome leads to sterile condition in women where they cannot have children on their own without artificial fertilization.

In other cases, one of the two X chromosomes may be abnormal and result to growth problems in a girl. The reason why Turner syndrome is found in girls is because it involves the X chromosomes. By and large, female fetus with XX chromosomes can survive with one X chromosome but contrary to female fetus, male fetus which is made up of XY chromosome, cannot survive without the X.

If a male foetus has only the Y chromosome and lacks the X chromosome, it will not survive. This again tries to explain why the condition is found in females than in males. Missing X chromosome is much worse than missing Y chromosome. To substantiate, Y chromosome contains fewer DNA molecules essential for life while X chromosome is a longer chain of DNA molecules with many genes that are responsible for cell functions in body.

Symptoms

Females with Turner Syndrome have problems with growth and sexual characters. Girls are shorter than normal. A woman with this condition has a stocky appearance and the arms may turn out at the elbow position. Another sign may be a receding lower jaw. A woman may also have a low hairline at the neck back and short webbed neck. In a webbed neck situation, there is development of extra skin folds, which extend from the shoulder tops to the neck sides. A girl may also have different shaped ears, which may be set in an unusual position at the lower sides of the head.

In addition, girls may also fail to start puberty when they attain the pubic age. This situation occurs because of underdevelopment of ovaries and synthesis of sex hormones like progesterone and oestrogen. When ovaries do not develop properly, it means that they cannot produce eggs and when this is coupled with problem in synthesis of sex hormones, it makes the puberty development a problem.

Besides these symptoms and signs, a girl may also show other symptoms such as swelling of hands and feet, in what is known as lymphedema. There may be heart and kidney defects, infertility and high blood pressure problems. Abnormal bone development may be witnessed in girls and particularly in the hands and arms. A girl may have more unusual moles on the skin. Because turner syndrome affects growth of body and sexual characteristics, a girl may experience self-esteem problems due to emotional challenges and self-denial.

Treatment

There is no specific cure for Turner syndrome because this condition is caused by abnormality in chromosomes. Nonetheless, there are treatments that can correct some of the problems and they are applied depending on the symptoms. People with Turner syndrome may show different symptoms. Some will have physical differences and body symptoms and others have fewer medical problems.

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If the condition is diagnosed early in advance, a girl can lead near normal and healthy productive lifestyle. One form of treatment is use of growth hormone to improve the growth and development of the body. The growth hormones can influence the height of a girl, which is one of the aspects affected by the condition. The growth hormone treatment needs to be started early to aid the girl grow to average height range.

Moreover, estrogen replacement may be done to help a girl reach and go through puberty stage. The estrogen helps in enhancing physical changes of puberty such as menstrual periods and breast development. The estrogen replacement treatment can be started at the age of 12 or 13.  Since Turner syndromes affects the ability of a women to become pregnant, doctors can use artificial ways of fertilization to enable the women become pregnant.

A process known as “in vitro” fertilization is applied to help some women with the condition to bear children. A donor egg is used to create an embryo in a laboratory setting and then the embryo is introduced into the womb of the woman. With the right care, the woman can be able to carry the pregnancy and deliver a normal baby.

Other symptoms are managed such as lack of self-esteem and high blood pressure. Heart problems can be treated depending on their severity. Other conditions like thyroid problems may be addressed with use of hormones. Overweight, diabetes, hearing loss can also be treated with medications and changes in lifestyles. However, these are secondary symptoms and may not show in every other patient with the condition. Some girls may develop problems in their learning abilities and they need assistance in learning and in particular, mathematics.

Life expectancy in Turner Syndrome patients

Women who have Turner Syndrome have a relatively lesser life expectancy compared to other healthier women.  The average age is 69-70 years with half of the patients dying from cardiovascular problems while 25 percent die from malignant issues.

Pictures including karyotype

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