The Significance of Turner's Syndrome

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Aversa et al. (2014) posit that Turner’s Syndrome manifests itself in a variety of ways in every female who gets affected by this genetic condition. Afshar & Platt (2018) agrees with Aversa et al. (2014) by supporting that an individual is likely to experience any combinations of the signs and symptoms of the disorder but is unlikely to have all the symptoms, therefore, it is usually rare for two individuals to share similar features. Afshar & Platt (2018) report that Turner’s Syndrome leads to constellations of physical findings that usually include the following signs and symptoms.

Short stature

Swelling of the feet and hands of the newborn (Lymphedema)

Shield (broad) chest and nipples that are widely spaced

Low posterior hairline

Low-set ears

Reproductive sterility

Underdeveloped (rudimentary) structures of the gonadal that become fibrotic in later stages of development

Absence of menstrual periods (Amenorrhoea)

Obesity

Shortened metacarpal

Small fingernails

Characteristic facial features

Webbed neck from the cystic hygroma during infancy

Stenosis of the aortic valve

Aorta coarctation

Bicuspid aortic valves

Horseshoe kidney

Visual impairments (glaucoma, cornea, sclera)

Hearing loss and ear infections

High waist to hip ratio (the waist is much bigger than the hips)

Attention deficit hyperactivity disorders (problems with memory, attention, and concentration with hyperactivity mainly evident during adolescence and childhood)

Nonverbal learning disabilities (problems with spatial relations, social skills, and maths)

Micrognathia (Small lower jaw)

Soft upturned nails

Drooping eyelids

Cubitus valgus

Palmar crease

Etiology

According to Bernard et al. (2016), the absence of one partial or complete of the X chromosome in all or some cells is what causes Turner’s Syndrome. The cells that are abnormal in nature have the have the characteristic of constituting of only one X chromosome (monosomy) (45, X). Similarly, the abnormal cells may be affected by one of many types of the partial monosomy such as the deletion of the short p arm of one of the X chromosomes (46,X,del(XP)) or the presence of the long two q arms (46,X,i(Xq)). The majority of the females affected with the syndrome experience having monosomy X (45, X) with additional cell lineages while approximately 10% of them often have duplications (isochromosome) of the long arm of one X chromosome (46,X,I(Xq)). Turner’s Syndrome has distinctively unique features due to the lack of the pseudoautosomal regions, which are typically spared from the X-inactivation. In the mosaic individuals, cells with X monosomy (45,X) have the possibility of occurring along with the normal cells (46, XX), cells with partial monosomies, or cells having the Y Chromosome (46, XY). The presence of the mosaicism in individuals has been relatively estimated to be common in the individuals affected by Turner’s Syndrome, representing about 65% - 90% possibility of the syndrome (Bernard et al., 2016).

Afshar & Platt (2018) explain that, in the majority of the cases of monosomy occurrence, the cause is affiliated to inheritance and the X chromosomes often come the mothers. The situation is likely to be correlated with the nondisjunction in the fathers. Meiotic errors that possibly trigger the both production and release of X with the p arm deletions or the abnormal Y chromosomes are also found in the fathers in most scenarios. Conversely, both parents usually form Isochromosome X, also known as the ring chromosome X, equally. Overall, the functional X chromosomes that usually lead to the cause of Turner’s Syndrome in females frequently come from the mother. In most cases, Turner’s Syndrome also occurs as a sporadic event. Therefore, for the parents of the individuals with the Turner’s Syndrome, the recurrence risk is not increased to have subsequential effects on the pregnancies that may be preceded by the birth of a child with the syndrome (Aversa et al., 2014). There are rare exceptions that usually entail the presence of balanced translocations of the X chromosomes in the parents, or in the situations where the mother has the mosaicism (45,X) that has been strictly restricted to the germ cells. 

Diagnosis

The diagnosis of Turner’s Syndrome may be conducted by the chorionic virus sampling or amniocentesis during pregnancy. The fetuses with Turner’s Syndrome can usually be identified by the abnormal ultrasound findings, which may represent kidney abnormality, heart defects, ascites, or cystic hygroma among others. In a study by Afshar & Platt (2018) on 21 European registries, 69.8% of the cases that have been prenatally diagnosed, the detection of the Turner’s Syndrome were through the determination of the abnormalities on ultrasound and 71.2% of the cases had the presence of one anomaly, and 39.0% had more than one anomalies. Besides, the increased risk of Turner’s Syndrome also has the possibility of being indicated by the abnormal quadruple or triple screening of the maternal serum. The fetuses which have diagnosed through the positive screening of maternal serum are found more often to have the mosaic karyotype than those that have been diagnosed on the basis of the ultrasonographic abnormalities. On the contrary, those with the mosaic karyotype have been determined to be less likely to contain the abnormalities associated with ultrasound screening.  

            The diagnosis of Turner’s Syndrome can be performed at any age postnatally. The syndrome is often diagnosed at the time of birth due to the likelihood of the associated health problems linked to the occurrence and the unusually swelling of the feet and hands or wide neck evident. However, it is also a common occurrence for the syndrome to go undiagnosed for numerous years after birth. Typically, if not diagnosed at birth, then the syndrome if often realized at the stage where the female reaches the adolescent age and fails to show the proper nature of development due to the failure of witnessing the changes associated with puberty or at the adulthood stage due to recurrent losses of pregnancy. The test referred to as “karyotype,” also termed as chromosome analysis, is often used to analyze the composition of chromosomes in individuals as the preferred effective test choice of diagnosing Turner’s Syndrome (Nadeem & Roche, 2014).

When a 45,X fetus that has been diagnosed prenatally and Turner’s Syndrome identified survives to birth, it has a prognosis similar to that of the child where the syndrome has been diagnosed postnatally. In many scenarios, approximately 90% of the fetuses in whom 45,X/46,XY or 45,X/46, YY mosaicism is incidentally diagnosed during the course of maternal triple screening or advanced maternal age screening will likely have the normal phenotypes, male or female, respectively at birth. The risk of gonadal eventual failure in such children with mosaicism is usually unknown. In contrast, children in whom 45,X/46, XY or 45,X/46, XX mosaicism diagnosis is conducted after birth are often identified because of the suggestive characteristics of the phenotypic features for the Turner’s Syndrome, therefore, these children usually have the prognosis similar to that for the 45,X children (Afshar & Platt, 2018).

The maximum number of the affected girls who receive a diagnosis as newborns are estimated to be a third of the total female children born because of the redundant nuchal skin or puffy feet and hands, the most evident residual effects of cystic hygromas in utero. Nevertheless, it is important that Turner’s Syndrome should be suspected in all the newborn girls with hypoplastic left heart, edema, or aortic coarctation since the frequency of these conditions has increased among the children with the Turner’s Syndrome. With the exception of constitutional delay or familial short stature, the most common cause of short stature is Turner’s Syndrome in otherwise healthy girls, and this results in only a third of the girls receiving diagnoses for the investigation of short stature in mid-childhood Sas et al., 2014).

Treatment

Turner’s Syndrome is a chromosomal condition, and, therefore, there is no cure for this genetic syndrome. However, much can only be done to help minimize the symptoms and effects of the syndrome, specifically in relation to the use of growth hormone and estrogen replacement therapy. Sas et al. (2014) suggest that the use of growth hormones, either with low doses of androgen or alone, increases the growth and development of the female children affected by Turner’s Syndrome probably to the final adult height. The growth hormones have been approved by the U.S. Food and Drug Administration for the treatment of Turner’s Syndrome and have many insurance coverage plans on them to promote the safety of the users. The growth hormones have been specifically effective even in the toddlers to increase the growth velocity in children with Turner’s Syndrome as early as when they are 18 months of age. 

            In a study conducted by Bernard et al. (2016), it was reported that approximately 95% of the females with Turner’s Syndrome develop ovarian failure usually because they have fewer eggs than the normal women, and this reduces their fertility and sexual productivity. Thus, there is the need to improve the fertility and development of sexual characteristics in the women with Turner’s Syndrome, and the use of Estrogen Replacement Therapy (ERT) has been considered effective and suitable by the endocrinologists in improving fertility. ERT is recommended to increase the fertility in the females with Turner’s Syndrome using such methods as birth control pills to promote the development of secondary sexual characteristics. These sexual characteristic are important elements in improving the growth of ovaries capable of releasing ova that can consequently enable the females with Turner’s Syndrome to have their own biological children. Estrogens are also critical in helping deal with the health problems associated with the Turner’s Syndrome as they maintain tissue health, improve cardiovascular activities, and enhance bone integrity to reduce the skeletal and cardiovascular problems among other health concerns (Bernard et al., 2016).   

In conclusion, Turner’s Syndrome occurs in 1 out of 3,000 live-born girls. It is estimated that 99% of the fetuses with Turner’s Syndrome experience spontaneous prevalence of terminations in the preliminary trimester period of the pregnancy. In the United States, for instance, Turner’s Syndrome has been determined to be accounting for approximately 10% of the total number of spontaneous prevalence of abortions. The syndrome is named after Henry Turner. Turner was the first endocrinologist who described the chromosome syndrome in 1938. Chromosomes contain the instructions that control and tell the human body how to function, grow, and develop. Considering that Turner’s Syndrome is a genetic disorder in females characterized by the condition of either completely or partly missing the X chromosome, it is often resulting in multiple health problems. The health problems are linked with several developmental and behavioral challenges specifically interrelated with the reproductive, cardiovascular, psychological, skeletal, cognitive, endocrine, and life expectancy concerns. The existence of health concerns related with the Turner’s Syndrome creates the necessity of the female children who are victims of the condition to always be under the primary care of specialists and continued follow-up in the centers of specialty care to foster a sense of well-being.   

References

Afshar, Y., & Platt, L. D. (2018). Turner Syndrome (Monosomy X). In Obstetric Imaging: Fetal Diagnosis and Care (Second Edition) (pp. 613-617).

Aversa, T., Lombardo, F., Corrias, A., Salerno, M., De Luca, F., & Wasniewska, M. (2014). In young patients with Turner or Down syndrome, Graves' disease presentation is often preceded by Hashimoto's thyroiditis. Thyroid, 24(4), 744-747.

Bernard, V., Donadille, B., Zenaty, D., Courtillot, C., Salenave, S., Brac de la Perrière, A., & Delemer, B. (2016). Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Human Reproduction, 31(4), 782-788.

Nadeem, M., & Roche, E. F. (2014). Bone mineral density in Turner's syndrome and the influence of pubertal development. Acta Paediatrica, 103(1), e38-e42.

Sas, T. C. J., Gault, E. J., Bardsley, M. Z., Menke, L. A., Freriks, K., Perry, R. J., & Ross, J. L. (2014). Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use. Hormone research in paediatrics, 81(5), 289-297.

August 09, 2023
Category:

Health

Subcategory:

Illness

Number of pages

8

Number of words

1957

Downloads:

36

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