Turner’s syndrome is a genetic disorder which mainly affects female growth and development. It is also termed as gonadal dysgenesis which occurs because of the absence of sex chromosome (X). The absence of the X chromosome causes abnormal development in human females. Instead of having a pair of 46 normal XX chromosomes, females with gonadal dysgenesis develop 45,X chromosomes (Castiglia, 1997). This odd combination of chromosomal pairing results in a conflicted sex of the person, where they are neither distinguished as male or female, due to the absence of the second X chromosome that would establish them as female. Yet, physically, the development of such individual is categorized as female because they also lack the presence of a Y chromosome. Yet such individuals develop as females due to the absence of the Y chromosome which could allow the development of the female gonads to be directed towards the male development (Castiglia, 1997).
The signs of Turner’s syndrome include female infants being born with Lymphedema which causes swollen hands and feet. The fingers and toes can have an appearance like sausages due to the swelling. They are also prone to having hip dislocations. Girls develop shorter statures, and they do not obtain the growth spurt which is accompanied at puberty. Fertility is also affected due to the disorder. At puberty, while the growth of pubic hair happens normally, young girls do not develop breasts, and ovarian failure occurs as well. Amenorrhea is associated with the ovarian failure. They might also have a webbed neck, shield chest, cardiac murmurs, hypothyroidism, and adolescents might incur scoliosis (Medscape, 2017).
The pathophysiology of Turner’s syndrome states that the homologous areas of the sex chromosomes act in the same way as autosomes whereby they experience homologous pairing and recombine in such a manner that the X-chromosome on one of the pairs escapes the process of pairing. All of the genes need to be present in pairs in males and females alike. 20 genes are present as annotates parts along with the guessed genes present in the PAR1 present at the Xp terminus. At PAR2 and the Xq terminus, there is a lesser significant set of the homologous genes. It is considered that the Haplo- insufficiencies at PAR1 genes is the cause of Turner’s syndrome. Unfortunately, there is no distinct pathophysiology for the disorder and its various signs and symptoms as yet.There is, however, some explanation provided for various signs such as stunted femur growth accompanied with damaged skeletal growth which leads to a short height and body frame and these are associated with the haploinsufficiency for a certain sex chromosome gene called the SHOX which is located in the PAR. This is the gene which is responsible for encoding a transcription factor that is involved in the development of cartilage and bone. Cardiovascular defects caused by Turner’s syndrome are very extreme, and they are the main cause for the higher mortality rate of individuals with the disease. This condition is also associated with the Haploinsufficiency for the imitating autosomal genes which cause the congenital disease. The genes present in the short and long arms of the X-chromosome are blamed for premature ovarian failure. However, there is debate over this as well. It is reported that the formation of ovaries in babies with the 45,X chromosome makeup is normal, but there is higher oocyte death and breakdown of the ovaries in the form of fibers. Certain neurocognitive characteristics of affected individuals such as difficulty in recognizing faces and scoring better on verbal performance rather than visual and spatial ones are also associated with the Haploinsufficiency for the genes present at Xp (Sybert and McCauley, 2004).
There is currently no cure for Turner’s syndrome, but the lifestyle and the health of the affected individual can be sustained with a few medical measures and earlier life care. The basic most benefit is the care and medical checkups that can be regulated early in life. Growth hormone therapy can be given to prevent the short height when they grow older. Taller height can be achieved if the therapy begins before puberty. Sex hormone replacement therapy is also useful as Estrogen hormone is administered to young girls usually around age 12-15 (Kelnar et al., 2007). At times Androgen replacement therapy is also given to young girls, but it is not the most preferred of ways. There are also dietary measures that can be taken by young girls such as having a higher calcium intake about 1.0-1.5 g and 400IU of Vitamin D. Also, such patients need to avoid becoming overweight, and they also need lesser calories intake per day. Further, there are now specialists for all conditions related to the disorder such as cardiologist, endocrinologist, urologist, psychologist and geneticist (Medlineplus, 2016).
Summarizing the essay:
Turner’s syndrome or gonadal dysgenesis is a disorder that occurs in female
Lack of the X sex chromosome in the pair of XX chromosomes
Such individuals are neither male nor female, but usually, develop as female
Signs and symptoms include lymphedema at birth, swollen hands and feet
Short stature in childhood and lack of growth spurt at puberty
Undeveloped breasts and amenorrhea
Failed ovaries and sterilization
Pathophysiology states that during the pairing of homologous genes, the X chromosome escapes pairing
Haploinsufficiency for the gene causes cardiac problems, neurological problems, and skeletal issues
There is currently no treatment for Turner’s syndrome.
Treatment include early detection and care and regular checkup
Can be managed by growth hormone therapy
Sex hormone replacement therapy also works before puberty
Regular calcium and Vitamin D intake
Going to specialist for treatment
References
Castiglia, P. T. (1997). Turner syndrome. Journal of Pediatric Health Care, 11(1), 34–36.
doi:10.1016/s0891-5245(97)90143-7
Kelnar, C., Savage, M., Saenger, P., & Cowell, C. (2007). Growth disorders 2E. Retrieved from
https://books.google.com.pk/books?id=MUfOBQAAQBAJ&pg=PA523&dq=turner+syndrome+treatment&hl=en&sa=X&ved=0ahUKEwjZlLHp69vRAhXJVRoKHWgXBMsQ6AEIMzAH#v=onepage&q=turner%20syndrome%20treatment&f=false
Medscape. (2017, January 7). Turner syndrome: Practice essentials, background,
Pathophysiology. Retrieved January 24, 2017, from http://emedicine.medscape.com/article/949681-overview
Medlineplus. (2016, July 13). Turner syndrome. Retrieved January 24, 2017, from
https://medlineplus.gov/turnersyndrome.html
Sybert, V. P., & McCauley, E. (2004). Turner’s syndrome. New England Journal of
Medicine, 351(12), 1227–1238. doi:10.1056/nejmra030360
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