CLINICAL AND CYTOLOGICAL STUDY ON TURNER SYNDROME

Authors

  • GURUSHANTAPPA S KADAKOL
  • Rudragouda S Bulagouda
  • Gavishiddappa Hadimani
  • Shankar V Patil

DOI:

https://doi.org/10.22159/ajpcr.2017.v10i4.16484

Abstract

Turner syndrome (TS) is a common chromosomaldisorder. Turner syndrome (TS) also known as Ulrich–Turner syndrome, gonadal dysgenesis and 45, X, is a condition in which a female is partly or completely missing an X chromosome.The main clinical features of TS are Swollen hands and feet,Wide and webbed neck, a combination of the following symptoms may be seen in older females:Absent or incomplete development at puberty, including sparse pubic hair and small breasts broad, flat chest shaped like a shield, drooping eyelids, Turner Syndrome frequently seen  in young infants.Our case of a 10-year-old girl has TS-specific clinical hallmarks,with the symptoms of short stature, wide barred shaped chest drooping eyelids. She visited our hospital because of her neck swelling, pain in on /off condition since one month. In our study we reported both clinically & cytogenetic investigation which shows a patient is suffering from Turner Syndrome. This type of Syndrome is very rare in this region.

Keywords:Turner Syndrome,   Short Stature,Chromosome Analysis

Downloads

Download data is not yet available.

References

Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 2006;91(10):3897-902.

Saldarriaga WG, Sánchez FA, de Lourido I. Síndrome de turner conmosaicismo 45x/46xy: Reporte de caso. Rev Chil Obstet Ginecol 2011;76(1):47-51.

Firth H, Hurst J. Turner syndrome 45X and variants. Oxford Desk

Reference: Clinical Genetics. 1 ed. Ch. 5. New York: Oxford University Press; 2007. p. 558-60. st

El Moussaif N, El Haddad N, Iraqi N. 45X/46XY mosaicisme: Report

of 5 cases and clinical review. Ann Endocrinol 2011;72:239-43.. Ocal G, Berberoglu M, Siklar Z, Ruhi HI, Tükün A, Camtosun E, et al.The clinical and genetic heterogeneity of mixed gonadal dysgenesis: Does disorders of sexual development (DSD)†classification based on

new Chicago consensus cover all sex chromosome DSD? Eur J Pediatr 2012;171:1497-502.

Soares H, Maia A, Campos M, Dória S, Lopes JM, Fontoura M. Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: Case report. Sao Paulo Med J 2008;126:297-9.

Indian Academy of Pediatrics Growth Charts Committee, Khadilkar V,

Yadav S, Agrawal KK, Tamboli S, Banerjee M, et al. Revised IAP growth charts for height, weight and body mass index for 5- to 18-yearold Indian children. Indian Pediatr 2015;52(1):47-55.

Verma RS, Babu A. Tissue Culture Techniques and Chromosome Preparation. 2 ed. New York: McGraw-Hill, Inc.; 1995. p. 6-13.

Rosa RF, D’Ecclesiis WF, Dibbi RP, Rosa RC, Trevisan P, Graziadio C, nd et al. 45,X/46,XY mosaicism: Report on 14 patients from a Brazilian hospital. A retrospective study. Sao Paulo Med J 2014;132(6):332-8.

Tosson H, Rose SR, Gartner LA. Description of children with

,X/46,XY karyotype. Eur J Pediatr 2012;171(3):521-9.

Tokmak A, Akselim B, Yesilyurt H. Turner syndrome with 45, X/46,XY mosaicism underwent gonadectomy: Report of 3 cases. Eastern J Med 2015;20(2):117-9.

Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, et al. Turner syndrome and Xp deletions: Clinical and molecular studies in 47 patients. J Clin Endocrinol Metab 2001;86:5498-508.

Trovó de Marqui AB. Turner syndrome and genetic polymorphism: A systematic review. Rev Paul Pediatr 2015;33:364-71.

Hassold T, Hunt P. To err (meiotically) is human: The genesis of human aneuploidy. Nat Rev Genet 2001;2(4):280-91.

Massa G, Verlinde F, De Schepper J, Thomas M, Bourguignon JP, Craen M, et al. Trends in age at diagnosis of Turner syndrome. Arch Dis Child 2005;90:267-8.

Sabin MA, Zacharin MR. Precocious puberty in Turner syndrome. J Paediatr Child Health 2007;43(11):776-8.

Baek JU, Park HK, Shim EJ, Hwang IT. Precocious puberty in Turner syndrome variant. J Pediatr Adolesc Gynecol 2012;25(5):e113-4.

Published

01-04-2017

How to Cite

KADAKOL, G. S. ., R. S. Bulagouda, G. Hadimani, and S. V. Patil. “CLINICAL AND CYTOLOGICAL STUDY ON TURNER SYNDROME”. Asian Journal of Pharmaceutical and Clinical Research, vol. 10, no. 4, Apr. 2017, pp. 3-5, doi:10.22159/ajpcr.2017.v10i4.16484.

Issue

Section

Case Study(s)