Turner Syndrome: An Update Review


Authors : Jahangir Alam; Devarakonda Shalini

Volume/Issue : Volume 9 - 2024, Issue 5 - May


Google Scholar : https://tinyurl.com/ypxaxyx8

Scribd : https://tinyurl.com/bdexssm

DOI : https://doi.org/10.38124/ijisrt/IJISRT24MAY508

Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.


Abstract : Turner syndrome was first described by Oklahoman physician Henri Turner in 1938. This syndrome can occur in females who have an absent X chromosome, either completely or partially. The two primary forms of TS are mosaic and classical. Data from newborn genetic screening and epidemiology in the US, Europe, and Japan suggest that it affects 1% to 3% of live female infants. Webbed neck, swollen hands and feet, shield-shaped chest, low hairline, droopy eyelids, high- arched palate, and elevated elbow carrying angle are among the physical traits associated with TS. Standard karyotyping, which looks at the chromosomes of 30 peripheral cells, can confirm the presence of Turner syndrome. Cardiovascular irregularity, hypogonadotropic hypogonadism, infertility, skeletal abnormalities, and autoimmune illnesses are among the complications associated with TS. The main treatment for TS is growth hormone therapy, with different approaches based on the organ involved.

Keywords : Turner Syndrome, Chromosome, Short Stature Homeobox, Hormone Replacement Therapy, Karyotype.

References :

  1. Prakash SK, Crenshaw ML, Backeljauw PF, Silberbach M, Scurlock C, Culin DD, et al. 45,X mosaicism in a population-based biobank: implications for Turner syndrome. Genet Med [Internet]. 2019;21(8):1882–3.
  2. Wang H, He Y, Shao X, Ding Y. Clinical characteristics and chromosome analysis of 67 children with Turner syndrome in Suzhou. Chinese Journal of Birth Health & Heredity. 2009;17:52–3.
  3. Zhang F, Zhang Z. Advances in the study of the diagnosis and treatment of Turner syndrome. Journal of China-Japan Friendship Hospital. 2015;29:192–4.
  4. Li J, Zi G, Mei X, Li J. Cytogenetic analysis of 18 cases of Turner syndrome in Zhengzhou. Chinese Journal of Birth Health & Heredity. 2011;19:44–44.
  5. Wang Z, Zou P, Lu L, Mao Q, Chen T. Cytogenetic analysis of 44 patients with Turner syndrome in Ningbo. Chinese Journal of Birth Health & Heredity. 2011;19:49–49.
  6. Su Q. Cytogenetic analysis of 73 patients with Turner syndrome in Beihai. Chinese Journal of Birth Health & Heredity. 2014;22:59–60.
  7. Knickmeyer RC, Davenport M. Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders. J Neurodev Disord [Internet]. 2011;3(4):293–306.
  8. Gravholt CH, Lauridsen AL, Brixen K, Mosekilde L, Heickendorff L, Christiansen JS. Marked disproportionality in bone size and mineral, and distinct abnormalities in bone markers and calcitropic hormones in adult turner syndrome: a cross-sectional study. J Clin Endocrinol Metab [Internet]. 2002;87(6):2798–808.
  9. Menke LA, Sas TCJ, de Muinck Keizer-Schrama SMPF, Zandwijken GRJ, de Ridder MAJ, Odink RJ, et al. Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome. J Clin Endocrinol Metab [Internet]. 2010;95(3):1151–60.
  10. Ross JL, Quigley CA, Feuilian P, Chipman JJ, Cutler GB. Effects of childhood low-dose estrogen on pubertal development in patients with Turner syndrome (TS): Results of a double-blind, randomized, placebo-controlled clinical trial. Hormone Research. 2008;70:43–43.
  11. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol [Internet]. 2017;177(3):G1–70.
  12. El-Mansoury M, Barrenäs M-L, Bryman I, Hanson C, Larsson C, Wilhelmsen L, et al. Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Clin Endocrinol (Oxf) [Internet]. 2007;66(5):744–51.
  13. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet [Internet]. 1997;16(1):54–63.
  14. Rajpathak SN, Vellarikkal SK, Patowary A, Scaria V, Sivasubbu S, Deobagkar DD. Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome. PLoS One [Internet]. 2014;9(6):e100076.
  15. Saenger P. Turner’s syndrome. N Engl J Med [Internet]. 1996;335(23):1749–54.
  16. Ford C. A sex-chromosome anomaly in a case of gonadal dysgenesis (turner’s syndrome). Lancet [Internet]. 1959;273(7075):711–3.
  17. Gravholt CH, Viuff M, Just J, Sandahl K, Brun S, van der Velden J, et al. The changing face of turner syndrome. Endocr Rev [Internet]. 2023;44(1):33–69.
  18. Huang AC, Olson SB, Maslen CL. A review of recent developments in Turner syndrome research. J Cardiovasc Dev Dis [Internet]. 2021;8(11):138.
  19. Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, et al. Localization of the X inactivation centre on the human X chromosome in Xq13. Nature [Internet]. 1991;349(6304):82–4.
  20. Davies W. The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes. Eur J Med Genet [Internet]. 2021;64(4):104169.
  21. Urbach A, Benvenisty N. Studying early lethality of 45,XO (turner’s syndrome) embryos using human embryonic stem cells. PLoS One [Internet]. 2009;4(1):e4175.
  22. Qi X, Wang Q, Yu M, Kong Y, Shi F, Wang S. Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins. Front Endocrinol (Lausanne) [Internet]. 2023;14.
  23. Cameron- Pimblett A, La Rosa C, King TFJ, Davies MC, Conway GS. The Turner syndrome life course project: Karyotype‐phenotype analyses across the lifespan. Clin Endocrinol (Oxf) [Internet]. 2017;87(5):532–8.
  24. Sybert VP. Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome. J Med Genet [Internet]. 2002;39(3):217–20.

Turner syndrome was first described by Oklahoman physician Henri Turner in 1938. This syndrome can occur in females who have an absent X chromosome, either completely or partially. The two primary forms of TS are mosaic and classical. Data from newborn genetic screening and epidemiology in the US, Europe, and Japan suggest that it affects 1% to 3% of live female infants. Webbed neck, swollen hands and feet, shield-shaped chest, low hairline, droopy eyelids, high- arched palate, and elevated elbow carrying angle are among the physical traits associated with TS. Standard karyotyping, which looks at the chromosomes of 30 peripheral cells, can confirm the presence of Turner syndrome. Cardiovascular irregularity, hypogonadotropic hypogonadism, infertility, skeletal abnormalities, and autoimmune illnesses are among the complications associated with TS. The main treatment for TS is growth hormone therapy, with different approaches based on the organ involved.

Keywords : Turner Syndrome, Chromosome, Short Stature Homeobox, Hormone Replacement Therapy, Karyotype.

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