The Diagnosis And Symptoms Of Turner's Syndrome

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Turner’s syndrome is a genetic disorder that occurs in 1 in every 2,500 female births. Though it occurs in about 3% of fetuses, 99% of these fetuses are spontaneously aborted[1]. Turner’s syndrome can be defined as a combination of phenotypes with varying expressivity along with the complete or partial loss of an X sex chromosome[2]. Symptoms of Turner’s syndrome include, but aren’t limited to short stature, glucose intolerance, broad chest and widely spread nipples, amenorrhea, webbed neck, aortic valve stenosis, visual impairments, hearing loss, problems with concentration, and nonverbal learning issues[3]. Not all individuals will present with the same combination of symptoms or with the same expressivity[4]. About half of the
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In the sonogram, characteristics such as edema, enlarged lymph nodes, and smaller femurs can be seen between 14 to 16 weeks of gestation[1]. In maternal serum levels if HCG levels are abnormal there is a higher chance that the child will have Turner’s syndrome[6]. Diagnosis of Turner’s syndrome postnatally is usually done with the use of karyotyping. Girls with mosaicism 45,X/46,XY are prone to develop gonadoblastoma[7]. If the DYZ3 locus is found on the Y chromosome using FISH, the risk of developing gonadoblastoma increases to 7 to 30 percent and gonadectomy should be performed if the DYZ3 locus is found in the gonadal tissue[5]. The exact loci and genes that cause the characteristics of Turner’s system are yet to be determined, but scientist think that the X chromosome plays an important role in the functionality of the ovaries, so when an X chromosome is missing, there may be a decrease both the amount and in the percentage of oocytes that are capable of thriving[5]. If the short arm of the X chromosome is missing, there is a higher chance that the individual will have short stature and this is due to the SHOX (short stature homeobox) gene missing in the pseudoautosomal region[4]. The SHOX gene is important for bone development and growth, so if it is missing, girls tend to be shorter than average. As opposed to …show more content…
The most common structural malformations are the contraction of the bicuspid valve which lies between the left atrium and left ventricle and the aorta. After the diagnosis of Turner’s syndrome, all patients are recommended to visit a clinic so that they can receive an echocardiogram to check for any heart malformations[5].
Endocrine Manifestations
5 to 10 percent of patients with Turner’s syndrome often have a decreased level of thyroid function. The average age of onset is around 30 years of age, so the measurement of thyrotropin levels and the screening of the thyroid should begin as early as age

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