Skip to content
Licensed Unlicensed Requires Authentication Published by De Gruyter November 6, 2014

Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience

Sarar Mohamed, Edna F. Roche and Hilary M.C.V. Hoey

Abstract

Background: Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.

Methods: This was a retrospective evaluation of the clinical and laboratory records of patients with TS.

Results: Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases.

Conclusions: Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.


Corresponding author: Sarar Mohamed, Faculty of Medicine, Department of Paediatrics, King Saud University, Riyadh, Saudi Arabia, E-mail:

References

1. Morgan T. Turner syndrome: diagnosis and management. Am Fam Phys 2007;76:405–10.Search in Google Scholar

2. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10–25.10.1210/jc.2006-1374Search in Google Scholar

3. Lippe BM, Saenger PH. Turner syndrome. In: Sperling MA, editor. Pediatric endocrinology, 3rd ed. Philadelphia: Elsevier, 2008:519–64.Search in Google Scholar

4. Cortés-Gutiérrez EI, Herrera-Bartolo R, Dávila-Rodríguez MI, Palacios-Saucedo GC, Vargas-Villarreal J, et al. Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome. Oncol Rep 2012;28:1205–10.10.3892/or.2012.1916Search in Google Scholar

5. Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 2006;91:3897–902.10.1210/jc.2006-0558Search in Google Scholar

6. Fernandez GR, Garcia DS, Costoya S. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of hidden mosaicism. Clin Genet 2000;58:205–8.Search in Google Scholar

7. Alvarez-Nava F, Soto M, Sanchez MA, Fernandez E, Lanes R. Molecular analysis in Turner syndrome. J Pediatr 2003;142:336–40.10.1067/mpd.2003.95Search in Google Scholar

8. Sallai A, Sólyom J, Dobos M, Szabó J, Halász Z, et al. Y-chromosome markers in Turner syndrome: screening of 130 patients. J Endocrinol Invest 2010;33:222–7.10.1007/BF03345783Search in Google Scholar

9. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004;351:1227–38.10.1056/NEJMra030360Search in Google Scholar

10. Kuntsi J, Skuse D, Elgar K, Morris E, Turner C. Ring-X chromosomes: their cognitive and behavioural phenotypes. Ann Hum Genet 2000;64:295–305.10.1046/j.1469-1809.2000.6440295.xSearch in Google Scholar

11. Freriks K, Timmers HJ, Netea-Maier RT, Beerendonk CC, Otten BJ, et al. Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome. Eur J Med Genet 2013;56:497–501.10.1016/j.ejmg.2013.07.008Search in Google Scholar

12. Gravholt CH, Fedder J, Naeraa RW, Müller J, Fisker S, et al. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000;85:3199–202.Search in Google Scholar

13. Nishi MY, Domenice S, Medeiros MA, Mendonca BB, Billerbeck AE. Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method. Am J Med Genet 2002;107:299–305.10.1002/ajmg.10168Search in Google Scholar

14. Sävendahl L, Davenport ML. Delayed diagnoses of Turner syndrome: proposed guidelines for change. J Pediatr 2000;137:455–9.10.1067/mpd.2000.107390Search in Google Scholar

15. Baxter L, Bryant J, Cave CB, Milne R. Recombinant growth hormone for children and adolescents with Turner syndrome. Cochrane Database Syst Rev 2007;(1):CD003887.10.1002/14651858.CD003887.pub2Search in Google Scholar

16. Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab 2012;97:E994–1003.10.1210/jc.2012-1245Search in Google Scholar

17. Davenport ML, Punyasavatsut N, Gunther D, Sävendahl L, Stewart PW. Turner syndrome: a pattern of early growth failure. Acta Paediatr 1999;88:118–21.10.1111/j.1651-2227.1999.tb14419.xSearch in Google Scholar

18. Saenger P. Growth-promoting strategies in Turner’s syndrome. J Clin Endocrinol Metab 1999;84:4345–8.Search in Google Scholar

19. Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL, et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 2007;92:3406–16.10.1210/jc.2006-2874Search in Google Scholar

20. Donoghues S, Claire-Michelle S. Abortion for foetal abnormalities in Ireland; the limited scope of the Irish Government’s response to the A, B and C judgement. Eur J Health Law 2013;20:117–43.10.1163/15718093-12341260Search in Google Scholar

21. Houston M. Ireland’s parliament votes to allow ‘life-saving’ abortion. Br Med J 2013;347:f4573.10.1136/bmj.f4573Search in Google Scholar

22. Wiktor AE, Van Dyke DL. Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients. Am J Med Genet A 2005;138A:259–61.10.1002/ajmg.a.30954Search in Google Scholar

23. Nadeem M, Roche EF. Bone mineral density in Turner’s syndrome and the influence of pubertal development. Acta Paediatr 2014;103:e38–42.10.1111/apa.12435Search in Google Scholar

24. Hook EB, Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet 2014;133:417–24.10.1007/s00439-014-1420-xSearch in Google Scholar

25. Zhao Q, Zhang Z, Xie S, Pan H, Zhang J, et al. Cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome presenting with various karyotypes. J Pediatr Endocrinol Metab 2013;26:1111–21.10.1515/jpem-2013-0145Search in Google Scholar

Received: 2014-7-2
Accepted: 2014-9-26
Published Online: 2014-11-6
Published in Print: 2015-11-1

©2015 by De Gruyter