Turner’s syndrome is a disease that usually affects females. It occurs when one of the X chromosomes (out of the pair of two XX chromosomes) of a female is either missing completely or partially. It can lead to huge numbers of developmental problems and medical complications. Some of the presenting features are short stature, delayed puberty, infertility, defects in the cardiovascular system, inability to grasp or learn new things and problems with social adjustments. The disease can be diagnosed in the gestational phase of the female or during early years of life. It is a rare occurrence that the diagnosis is made at a later stage after the appearance of some of the signs and symptoms of the disease. Almost all the females suffering with this disease require continuous medical care from different medical specialities. Regular medical checkups and a good care can help almost all the female patients to lead a relatively normal and a healthy life (Mayo Clinic Staffs).
The commonest anomaly found in this disease is the absence of one of the X chromosomes out of the pair of female sex chromosomes. Some of the patients may demonstrate some changes in the X chromosome or some part of the single X chromosome is missing. This pattern is known as mosaicism and the patient demonstrating such a pattern is known to have mosaic Turner’s syndrome. Researchers have not been able to exactly locate the gene on the X chromosome which is responsible for the characteristic symptoms of the condition. However, a gene named as SHOX have been identified which has a role to play in bone growth and development. Lack of this gene in any of the X chromosome is also known to be a significant contributor in the development of the characteristic symptoms of the disease. Although a genetic disease, it is usually not inherited. The disease develops as a random event which results in the disruption of the normal chromosomal patterns (U.S. National Library of Medicine).
A 4 year old female patient was diagnosed with the disease. Chromosomal analysis showed mosaic karyotype with a normal height and weight as per the age. Due to this fact, the patient was not administered Growth Hormone. She presented to the clinic with vaginal bleeding at the age of 7 years and 10 months. Her growth rate was found to be accelerated as a result of the disease condition. Her bone age was found to be of 10 years. Abdominal USG demonstrated overgrown uterus and ovaries, not corroborating with her stated age. All the lab findings suggested idiopathic central precocious puberty. The patient was started on GnRH therapy for delaying her pubertal growth and keeping up with the height growth. Later on, Growth Hormone therapy was started in order to further increase the height of the patient (Improda et al. 54).
I found this topic of personal interest as this is an extremely important disease when seen from the point of view of a person suffering from the same. The female with this disease will be leading a life which is highly complicated. Her external appearance will make her develop a feeling of being socially inferior. She will develop an identity crisis as she will not look like a normal lady and is not even a male. These emotional turbulences will lead to a great deal of psychological trauma for the patient.
Works Cited
Improda, Nicola et al. "Precocious Puberty In Turner Syndrome: Report Of A Case And Review Of The Literature". Ital J Pediatr 38.1 (2012): 54. Web. 20 May 2016.
Mayo Clinic Staff,. "Turner Syndrome Symptoms - Mayo Clinic". Mayoclinic.org. N.p., 2016. Web. 19 May 2016.
U.S National Library of Medicines,. "Turner Syndrome". Genetics Home Reference. N.p., 2016. Web. 20 May 2016.
