Authors
Mahesh Sharma
Abstract
Turner’s syndrome (TS) is referred to as the monosomy X, in which a part of a sex chromosome or total chromosome is lost (45X) with the ratio of 1:2500 in live born infants with phenotypic females. Commonly known as Ulrich Turner Syndrome and it contain main clinical features that includes short stature, cardiac anomalies, lymphedema, primary ovarian, gonadal dysgenesis, swollen hands and feet, webbed neck and neurocognitive difficulties. Patients face various difficulties during increasing over the lifespan in given complexity of the condition. Turner’s syndrome is not detectable in early phase generally which is the main cause of its acuteness. The diagnosis and care of turner syndrome was published on individuals in 1994. By the knowledge of complex etiology and detailing more about its clinical variability and difficulties conclusively allow us to develop the therapeutic and management approach of such patients. In this review paper, study about the diagnostics changes of the turner syndrome in individual. Keywords: Turner Syndrome, Diagnosis, Etiology
Introduction
Turner’s syndrome, is partial or complete loss of second X-chromosome in new birth females (Ramirez and Villarreal, 2016). This syndrome is not inherited by parents, normal people contain the 46 chromosome but inherited people have 45X chromosome (Kadakol et al., 2017). It occur in one every 2500-3000 live birth and it is only full monosomy which is compatible with life (Ramirez and Villarreal, 2016). Common symptoms were recognized in Turner syndrome that is Short stature, pubertal delay/ovarian insufficiency, cardiac and renal abnormalities, sensorineural hearing loss, ophthalmologic problems, thyroid abnormalities, metabolic syndrome, inflammatory bowel disease and neurocognitive issues (Shankar and Backelijauw, 2018). Turner syndrome with mosaicism is defined as the chromosomal abnormality may be present in some cells. This syndrome was found in 1-2% pregnant ladies and 99% have a spontaneous abortion. About 60% cases of turner syndrome that has 45X chromosomes, 5-10% cases show X chromosome anomalies which is deletion of long or short arms, isochromosomes or ring chromosomes and 6-9% cases shows a normal or structurally Y chromosomes (Iqbal, 2014).
Diagnosis
Turner syndrome’s diagnosis can be conducted for difeerent age groups (Shankar and Backeljauw, 2017). By using a conventional Karyotype or other cytogenetic analysis, confirm the diagnosis of a subject aneuploidy. In case of 3-6% women, with turner syndrome that have a 45X/46, XY mosaic and with the risk of presenting gonadoblastoma during their lives lies between 7% to 30% (Ramirez and Villarreal, 2016).
Diagnosis was occur into two forms:
• Prenatal Diagnosis
• Postnatal Diagnosis
References
Bondy, Carolyn. “Recent Developments in Diagnosis and Care for Girls in Turner Syndrome.” Advances in Endocrinology, vol. 2014, 2014, pp. 1–9.
Culen, Caroline, et al. “Care of Girls and Women with Turner Syndrome: beyond Growth and Hormones.” Endocrine Connections, vol. 6, no. 4, 2017.
Hjerrild, Britta E., et al. “Turner Syndrome and Clinical Treatment.” Turner Syndrome and Clinical Treatment, 9 Apr. 2018.
Iqbal, S. “Turner Syndrome: Update the Paradigm of Diagnosis, Clinical Care and Consequences of Y Cell Lines.” Turner Syndrome: Update the Paradigm of Diagnosis, Clinical Care and Consequences of Y Cell Lines, 3(2), 15 June 2014, pp. 8–17.
KADAKOL, GURUSHANTAPPA S, et al. “CLINICAL AND CYTOLOGICAL STUDY ON TURNER SYNDROME.” CLINICAL AND CYTOLOGICAL STUDY ON TURNER SYNDROME, vol. 10, no. 4, Jan. 2017, pp. 3–5.
Pinsker, Jordan E. “Turner Syndrome: Updating the Paradigm of Clinical Care.” The Journal of Clinical Endocrinology & Metabolism, vol. 97, no. 6, 2012.
Ramirez, M. Ibarra, and L.E. Martinez-de-Villarreal. “Clinical and Genetic Aspects of Turner's Syndrome.” Clinical and Genetic Aspects of Turner's Syndrome, 17 May 2016, pp. 42–48.
Saenger, P. “Recommendations for the Diagnosis and Management of Turner Syndrome.” Journal of Clinical Endocrinology & Metabolism, vol. 86, no. 7, Jan. 2001, pp. 3061–3069.
Shankar, Roopa Kanakatti, and Philippe F. Backeljauw. “Current Best Practice in the Management of Turner Syndrome.” Therapeutic Advances in Endocrinology and Metabolism, vol. 9, no. 1, 2017, pp. 33–40.
Wolff, Daynna J., et al. “Laboratory Guideline for Turner Syndrome.” Laboratory Guideline for Turner Syndrome, vol. 12, 1 Nov. 2010, pp. 52–55.
Yang, Seung. “Diagnostic and Therapeutic Considerations in Turner Syndrome.” Annals of Pediatric Endocrinology & Metabolism, vol. 22, no. 4, 2017, pp. 226–230.
How to cite this article?
| APA Style | Sharma, M. (2019). Study on Diagnosis of Turner Syndrome. Academic Journal of Life Science, 1(1), 6-9. |
| Chicago Style | |
| MLA Style | |
| DOI | |
| URL |