Turner's Syndrome-A Woman's Disease

Biology 103
2002 First Paper
On Serendip

Turner's Syndrome-A Woman's Disease

Melissa Brown

Imagine that you are 13 years old. All your friends are growing: they are getting taller; they are starting to menstruate; they seem to know exactly what to say at the right moment. You, on the other hand, are conspicuously shorter than your peers; you don't have your period and you seem to blurt out whatever comes to your mind. You would probably feel that you are awkward and begin to develop low self-esteem. This could be the life of a teenage girl with Turner's Syndrome.

Turner's Syndrome is a chromosomal problem that affects one in every 2000 females (1). So in the tri-college community, there may be at least one woman with Turner's Syndrome (TS). Although, you may not know someone with Turner's Syndrome it can safely be assumed that you have unknowingly encountered someone with the disease because of the frequency of the illness. Turner's Syndrome is named after Dr. Henry Turner who described some of the features of TS like short stature and increased skin folds in the neck(1). TS is sometimes also called Ullrich-Turner Syndrome because of the German pediatrician who, in 1930, also described the physical features of TS (1).

Why is it that TS only affects women? Well, TS arises from an abnormality in the sex chromosome pair. In the human body, there are 46 chromosomes grouped into 22 pairs of autosomes (all chromosomes that are not the sex chromosome) and the sex chromosome pair which influences whether a girl has TS. Men have a sex chromosome pair that is XY where the X chromosome comes from the mother and the Y chromosome comes from the father. Women have an XX chromosome pair with one X chromosome coming from the mother and the other X chromosome coming from the father. However, a female baby who has TS has only one X chromosome or is missing part of one X chromosome (1). The female baby receives only one X chromosome because either the egg or the sperm ended up without a chromosome when it was being split in half to make sex cells. The baby girl may be missing part of one X chromosome because there is a deficiency in the amount of genetic material (4).

TS is determined by looking at a picture of the chromosomes which is known as a karyotype. This technique was not developed until 1959(1). Karyotyping was not available to Dr. Turner and Dr. Ullrich in the 1930s. These doctors defined the disease by the physical features that a TS sufferer may have. Some of these are lymphoedema of hands and feet, or puffy hands and feet, broad chest and widely spaced nipples, droopy eyelids, low hairline and low-set ears. There are also clinical ailments that are associated with TS like hearing problems, myopia or short-sightedness, high blood pressure and osteoporosis. People who suffer from TS also have behavioral problems and learning difficulties (1), (3).

In spite of the physical, social and academic problems that a woman with TS may have, she can still be successful in life. Women who have TS have become lawyers, secretaries and mothers. It may be more challenging for a woman suffering with TS to accomplish her goals but they are not impossible. TS is a "cradle to grave" condition which means that it is lifelong and must be treated throughout the sufferer's life span (1). When the girl or woman has been diagnosed she should go under the care of an endocrinologist who is a doctor who specializes in hormones.

There are various medical methods that could be used to make the girl's life as normal as possible. Girls can have an average stature by undergoing growth hormone treatment before growth is completed. Oxandrolone, an anabolic steroid, can also be used to promote growth. Oestrogen is used when the girl is about 12 or 13 to produce physical changes like breast development and for the proper mineralization of bones. Progesterone should also be used at the appropriate time to start the period (1), (3).

Sufferers of TS also have problems like heart murmurs or the narrowing of the aorta which may require surgery. Women with TS are more prone to middle ear infections. If they recur frequently, they may lead to deafness so a consultation with an ear, throat and nose specialist would be helpful. Some of the health concerns of women with TS are encountered by all women. High blood pressure afflicts women with TS as well as diabetes and thyroid gland disorders but the latter afflicts women with TS at a slightly higher rate than non-sufferers of the disease. Osteoporosis may start earlier in TS sufferers because the women lack oestrogen so HRT (Hormone Replacement Therapy) may be considered to delay the onset of Osteoporosis (1), (3).

Women who have TS are further challenged socially because they are disruptive; they blurt out whatever comes to mind and have difficulty learning social skills. A recent study suggests that women with TS may be more disruptive depending on whether the X chromosome comes from the mother or the father. If the woman's X chromosome came from her mother she has more problems learning good social skills than a girl whose X chromosome came from her father. The study insinuates that the X chromosome from the mother instructs the girl to misbehave while the X chromosome from the father tells her to control herself (2).

A girl's disruptive behavior may make her feel uncomfortable in social situations. Her discomfort increases if she has difficulty speaking clearly. However, visits to a speech therapist can improve her ability to speak well. Such behavior can be particularly detrimental in school. Furthermore, people who have TS usually have learning disabilities so they find school less appealing. Parents should present teachers with a leaflet entitled "TS and Education, An Information Leaflet for Teachers" which will help the teacher better instruct the child in class and make learning a less burdensome activity(1).

School is where children and teenagers spend most of their time. For girls who suffer from TS school becomes less welcoming during the pubescent years when social, physical and academic skills are increasingly important. Negative experiences can bring about low self-esteem. Young women who suffer from TS should join a support group where they can find allies and express their feelings. Alternatively, the reticent girl can keep a journal where she can privately reveal her concerns about her life as a TS sufferer. Parents who notice that their daughter is being adversely affected by her inability to "fit in" with her comrades should seek professional help (3).

There are many challenges faced by women who have TS. Some of these challenges require a lot of medical assistance while others only require small alterations to the sufferer's daily life. TS is not an ailment that is intermittent or can be cured. The woman with TS lives with the syndrome every day for the rest of her life. It is important to remember that TS is not transmitted from person to person but it is a syndrome that is borne out of chance; the possibility randomly exists that a female embryo may not have two complete X chromosomes. Since TS does not affect men it can be overlooked despite the frequency with which women are born with it because we live in a patriarchal world. We, as women, should be allies to highlight the diseases that only women have.

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