Turner Syndrome

Turner Syndrome

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Turner Syndrome

Description

Monosomy is a term used to describe a condition where one member of a pair of chromosomes is absent. This means that the total number of chromosomes amount to 45 instead of the normal 46. For instance, if a child in this case is born with one X-chromosome instead of the usual pair of XX or XY. This child is said to be suffering from Monosomy X. Monosomy X is another name for Turner syndrome. Primarily, turner syndrome is genetic condition that affects girls. This disorder causes the affected girls to be shorter than normal and fail to pass through puberty as they mature into adults. The severity of this condition varies among individuals. Some of the features of this condition include heart defects, kidney problems, and skeletal abnormalities among others.

Most of the problems that come from turner syndrome can be corrected or managed by using appropriate medical treatment (Albertsson and Ranke, 2009). The name Turner syndrome is derived from Doctor Henry Turner who made investigation on this condition in 1938. This condition affects an estimated 1 in every 2,500 new born girls worldwide. It is most prominent in pregnancies that fail to survive to term (stillbirths and pregnancies).

Causes

In a normal reproduction process, the sperm cell of the man and egg cell from the woman begin with the normal 46 chromosomes. The sperm and the egg go through cell division and the 46 chromosomes are split in half where the sperm and egg cells constitute 23 chromosomes each. When an egg with 23 chromosomes is fertilized by a sperm with the same number of chromosomes, the resulting embryo is made up of with a matching set of 46 chromosomes. However, an error sometimes occurs when a sperm or an egg cell is forming, thus causing it to lack a sex chromosome. Because this cell fails to donate sufficient sex chromosomes, the result is Turner syndrome (Albertsson and Ranke, 2009).

The missing chromosome can be in either the man’s sperm cell or the woman’s egg cell. In most cases, this happens in the man’s sperm. It is not know whether the man failed to do something or did something that led to an error in his sperm. Therefore, contrary to common thought, Turner syndrome is not associated with advanced age of the woman. The features of this condition result from the missing X chromosome in the body cells. About half of Turner syndrome cases are caused by full Monosomy X. Other cases exhibit a mosaic pattern. A smaller portion of Turner syndrome is caused when part of the X chromosome is missing even though the normal 46 chromosomes are present (Rosenfeld and International Turner Syndrome Symposium, 2008). When a portion of the X chromosome is missing (deletion), affected girls exhibit mild symptoms of the condition. The symptoms of Turner syndrome are dependent on which portion of the X chromosome is missing.

Signs

            About half of girls with this condition exhibit puffy feet and hands when they are born in addition to a webbed and wide neck. It is possible for the doctor to detect “cystic hygroma” during pregnancy. A cystic hygroma implies sacs filled with fluid located at the floor of the neck. These sacs normally disappear before birth and in some cases may persist up to the newborn period. Normally, girls with this syndrome exhibit a low hairline at the rear of the neck, deep-set nails, widely space nipples and minor differences in the position and shape of their ears. The most visible feature among individuals with Turner syndrome is a short stature. The average height of adult woman with Turner syndrome is 4 feet 9 inches.

Most women born with this condition have poorly formed ovaries or may even lack them. Ovaries play a major role in a female’s body including producing estrogen. Limited estrogen in the body leads to curtailed sexual development. Normal signs of puberty such as menstruation, breast development and growth of axillary and pubic hair do not occur properly. In most cases, the consequential infertility cannot be corrected (Rosenfeld and International Turner Syndrome Symposium, 2008). Kidney problems, heart problems, and thyroid disorders are also common among these individuals and hence should prompt early evaluation. About two in ten girls suffer from coarctation of the heart.

Other signs noted in people with Turner syndrome include middle ear infections, feeding problems in the infancy stage, and skeletal problems. Skeletal problems come in the form of “cubitus valgus” meaning that they have slightly bent elbows. Other reported features in this condition include high blood pressure, dry skin, diabetes and a small jaw. Nevertheless, girls with this syndrome have normal intelligence. They perform better with their verbal IQ compared to nonverbal IQ.

Treatment and Management

Currently, Turner syndrome does not have a cure. However, most of the serious problems that come with it can be treated. Androgen and growth hormone therapy for example can be administered to the patient to facilitate normal body growth (Ranke and Rosenfeld, 2012). Additionally, hormone replacement therapy is an efficient way of helping girls develop sexual characteristics such as normal breasts and pubic and axillary hair.  Surgery can be applied in cases where the patient may be suffering from coarctation of the heart. There is medicine capable of treating diabetes, high blood pressure, and thyroid problems. If they desire, women with Turner syndrome can rely on egg donation to give birth to children. It is important to administer treatment and management measures while the girl is still young. Failure to do so leads to a higher chance of poor results when the girl has grown. For example, estrogen replacement therapy should be conducted at age 12 when girls normally enter puberty (2012).

Social and Economic Implications

            Ultimately, Turner syndrome holds major social and economic implications to the patient and loved ones. In terms of social relations, girls and women with this condition exhibit low self-esteem and limited sexual experiences. Due to diminished growth and other problems that come with this condition, affected girls exhibit poor social adjustment. The main reason is that they are subjected to bullying and disdain by their peers. Additionally, some patients have a hard time adapting to new institutions thus leading to inappropriate behavior. Issues such as making new friends become difficult when learning how to act in a new social environment (Oxford Clinical Communications and Pharmacia Peptide Hormones, 2011). Depression and anxiety normally develop.

Successful treatment and management of this condition requires adequate funds. The girl patient needs to make frequent visits to the hospital for regular check. Necessary therapy, medicine, and counseling regarding this condition are very expensive. This implies huge expenses for the parents or guardians of the girl child. In unfortunate cases, the girl may hail from a poor background that cannot afford to pay for treatment and management. In such cases, the wellbeing of the girl is often compromised.

Reference

Albertsson-Wikland, K., & Ranke, M. B. (2009). Turner syndrome in a life span perspective: Research and clinical aspects : proceedings of the 4th International Symposium on Turner Syndrome, Gothenburg, Sweden, 18-21 May, 2009. Amsterdam: Elsevier.

Oxford Clinical Communications., & Pharmacia Peptide Hormones. (2011). GH and Turner syndrome. Oxford: Oxford Clinical Communications for Pharmacia Peptide Hormones.

Ranke, M. B., & Rosenfeld, R. G. (2012). Turner syndrome: Growth promoting therapies : Workshop on Turner syndrome : Papers. Amsterdam: Excerpta Medica.

Rosenfeld, R. G., & International Turner Syndrome Symposium. (2008). Turner syndrome. New York: M. Dekker.