Medical Essay on Turner Syndrome

Causes, Statistics, Physiology, and Anatomy

Turner syndrome is a genetic disorder that occurs in girls and it is only predominant in the female sex. The genetic disorder occurs as a result of a structural alteration or rearrangement or partial missing of one of the X sex chromosome; in other cases, the X sex chromosome may be missing completely which later affects the development of the child before and after birth. Despite the fact that Turner syndrome is a genetic disorder, it is not genetically inherited from one generation to the next. Turner syndrome occurs in about 2,500 newborn baby girls across the world, but the condition is more prevalent in pregnancies are not able to survive to term; these are mostly miscarriages and stillbirths. About half of the females who have Turner syndrome are known to have monosomy X, this means that each cell in the body of the individual has only one of the two copies of the sex chromosomes. In other cases, the Turner syndrome condition may prevail in a manner that the chromosomal change occurs only in some of the somatic cells and this is referred to as mosaicism. Females who have Turner syndrome caused by the X chromosome mosaicism are mostly said to have mosaic Turner syndrome. Research is still underway to determine which genes located on the X chromosome are mostly associated with most of Turner syndromes features. Consequently, one gene referred to as SHOX has been identified; the gene is important for the development and growth of the bone. When an individual loses one copy of the SHOX gene, there is a high possibility of occurrence of short stature and many skeletal abnormalities; these are observed as some of the symptoms of Turner syndrome in women.

When Turner syndrome results from monosomy X, the abnormality of the chromosome occurs unsystematically in the parent of the affected person during the event of the reproductive cells formation. Reproductive cells (sperm or eggs) having an abnormal chromosome number may be due to nondisjunction which is an error during cell division. For instance, a sex chromosome can be lost from an egg or a sperm due to nondisjunction. On the other hand, mosaic Turner syndrome occurs as an unsystematic event in early fetal development during cell division in an affected individual. Individuals with mosaic Turner syndrome have cells which have the usual number of chromosomes (two), in other instances, they may have only a single copy; these may include other chromosomal abnormalities on the X chromosome. With regards to genetic inheritance of Turner syndrome, partial deletion of the X chromosome which is a causative agent of the disorder is rare in occurrence. Ultimately, mosaic Turner syndrome is not genetically inherited (Wolff, Van Dyke, & Powell, 2010).

Symptoms

There are several observable symptoms among individuals who are affected with Turner syndrome. The symptoms occur at various stages; predominantly before birth, during infancy or at birth, and at adult stages of life from puberty, teen and older women. Before birth, when a prenatal ultrasound is performed on a fetus, some of the symptoms shown will include abnormal kidneys, heart abnormalities, and large or abnormal fluid collections which occur around the regions of the back of the neck. During infancy or at birth, some physical features are predominant including poor growth in some girls. Despite these physical features, the visible signs of affected individuals at birth include low-set ears, high & narrow palate, wide or web-like neck, delayed growth, arms that turn outward at the elbow, hands and feet swelling, receding or small lower jaw, short fingers and toes, low hairline around regions at the back of the head, and a height that is slightly smaller than the average. The signs and symptoms might not be apparently recognizable at the early stages of a female; ultimately, the following are signs that an elderly woman has Turner syndrome: lack of growth spurts at specific times during childhood, sometimes the individual might have learning disabilities though the intelligence is normal, short stature in terms of height, early ends to menstrual cycle which is not brought about by pregnancy, failure to begin sexual changes as expected during adolescence, and for a woman with Turner syndrome she may be unable to give birth to a child in case she does not get fertility treatment. Consequently, in spite of these signs and symptoms one cannot clearly distinguish between the prevalence of Turner syndrome and other disorders; therefore, it is always advisable that a person sees a medical doctor for assessment.

Complications and Effects

Turner syndrome can bring about several complications to the bodys organs and systems. Turner syndrome can cause kidney problems as it has been observed in many females who have the condition; this increases the rate of urinary infection of the victims and augments high blood pressure risk. Consequently, Turner syndrome may lead to risk factors for diseases associated with the cardiovascular system and to a greater extent lead to heart problems; this affects the blood vessels and the circulation of blood in the body which is fatal. Another complication of Turner syndrome is a high rate of immune disorders which include hypothyroidism which results in the low hormonal production. Hearing loss is also an adverse effect brought about by Turner syndrome which comes along as a result of nerve function loss progressively. Dental problems are also significant among victims with Turner syndrome; the signs which are observed among the individuals at the various developmental stages may later turn out to be gross problems. Additionally, vision problems are also associated with individuals suffering from Turner syndrome including conditions such as hyperopia and strabismus. To a greater extent, women with Turner syndrome encounter many complications during pregnancy since most of them are always infertile; they always have to undergo infertility treatment (Pinsker, 2012).

Treatment and Medication

Hormone therapies are a better solution when it comes to treating girls with Turner syndrome. Dealing with Turner syndrome at its preliminary stages can help alleviate many effects that might affect the victim at her later stages of life. For most girls, growth hormone therapies are meant to increase their height; the treatment is administered as injections which are given on a weekly basis. At some instances when the height is very short, it is always recommended in addition to the growth hormone for the patients to go for oxandrolone. Consequently, for girls with Turner syndrome, it is always commendable that they go for estrogen among other hormone-related therapies so that they can get their sexual changes transition in place. Regular checkups are also advisory for victims who are suffering from Turner syndrome. Any infection always calls for an individual to observe a healthy eating and lifestyle habit. For women who have infertility problems, the solution is by undergoing In vitro fertilization treatment (Davenport, 2010).

References

Davenport, M. L. (2010). Approach to the patient with Turner syndrome. The Journal of Clinical Endocrinology & Metabolism, 95(4), 1487-1495.

Pinsker, J. E. (2012). Turner syndrome: updating the paradigm of clinical care. The Journal of Clinical Endocrinology & Metabolism, 97(6), E994-E1003.

Wolff, D. J., Van Dyke, D. L., & Powell, C. M. (2010). Laboratory guideline for Turner syndrome. Genetics in Medicine, 12(1), 52-55.

http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/definition/con-20032572