open access

Vol 68, No 1 (2017)
Original paper
Submitted: 2016-05-15
Accepted: 2016-06-14
Published online: 2016-10-14
Get Citation

Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype

Agnieszka Frelich, Jakub Frelich12, Wacław Jeż, Tomasz Irzyniec
·
Pubmed: 27828687
·
Endokrynol Pol 2017;68(1):47-52.
Affiliations
  1. Specialist Dental Clinic S.C. Żory, Poland
  2. Specialist Dental Clinic S.C. Żory, Poland

open access

Vol 68, No 1 (2017)
Original Paper
Submitted: 2016-05-15
Accepted: 2016-06-14
Published online: 2016-10-14

Abstract

Introduction: A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it.

Material and methods: Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014.

Results: Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups.

Conclusions:

  1. With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls.
  2. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47–52)

Abstract

Introduction: A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it.

Material and methods: Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014.

Results: Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups.

Conclusions:

  1. With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls.
  2. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47–52)
Get Citation

Keywords

Turner syndrome; 45,X/46,XY karyotype; head; neck

About this article
Title

Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype

Journal

Endokrynologia Polska

Issue

Vol 68, No 1 (2017)

Article type

Original paper

Pages

47-52

Published online

2016-10-14

Page views

1787

Article views/downloads

1323

DOI

10.5603/EP.a2016.0063

Pubmed

27828687

Bibliographic record

Endokrynol Pol 2017;68(1):47-52.

Keywords

Turner syndrome
45
X/46
XY karyotype
head
neck

Authors

Agnieszka Frelich
Jakub Frelich
Wacław Jeż
Tomasz Irzyniec

References (26)
  1. TURNER H. A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1. Endocrinology. 1938; 23(5): 566–574.
  2. Meng H, Hager K, Rivkees SA, et al. Detection of Turner syndrome using high-throughput quantitative genotyping. J Clin Endocrinol Metab. 2005; 90(6): 3419–3422.
  3. Lippe B. Turner Syndrome. Endocrinol Metab Clin North A 1991; 20: 121-152.
  4. Omoe K, Endo A. Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: a molecular evolutionary analysis of Rps4 homologs. Genomics. 1996; 31(1): 44–50.
  5. Jeż W, Irzyniec T, Pyrkosz A. Selected problems of the diagnosis of Turner’s syndrome. Przeg Lek 2007; 64: 130-133.
  6. Nielsen J, Wohlert M. Denmark. Births deffects. 1990; 26: 209–233.
  7. Kleczkowska A, Dmoch E, Kubian E, Fryns JP, Van den Berhe H. Cytogenetics findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989. Genet Couns 1990; 1: 113-117.
  8. Wolff DJ, Van Dyke DL, Powell CM, et al. Working Group of the ACMG Laboratory Quality Assurance Committee. Laboratory guideline for Turner syndrome. Genet Med. 2010; 12(1): 52–55.
  9. Rosa RF, D'Ecclesiis WF, Dibbi RP, et al. 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. Sao Paulo Med J. 2014 [Epub ahead of print]; 0(6): 0–338.
  10. Portnoï MF, Chantot-Bastaraud S, Christin-Maitre S, et al. Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. Eur J Med Genet. 2012; 55(11): 635–640.
  11. Lindhardt Johansen M, Hagen CP, Rajpert-De Meyts E, et al. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study. J Clin Endocrinol Metab. 2012; 97(8): E1540–E1549.
  12. Farrugia MK, Sebire NJ, Achermann JC, et al. Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. J Pediatr Urol. 2013; 9(2): 139–144.
  13. Samarakoon L, Sirisena ND, Wettasinghe KT, et al. Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea. J Obstet Gynaecol Res. 2013; 39(5): 991–997.
  14. Stochholm K, Juul S, Juel K, et al. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006; 91(10): 3897–3902.
  15. Styne DM, Grumbach MM. Puberty: Ontogeny, Neuroendocrinology, Physiology, and Disorders. In: Melmed S, Polonsky KS, Reed Larsen P, Kronenberg HM, eds. Williams Textbook of Endocrinology 12th ed.Styne DM, Grumbach MM. ed. Saunders Elsevier, Philadelphia : 1054–1201.
  16. El Moussaif N, Haddad NEl, Iraqi N, et al. 45,X/46,XY mosaicisme: report of five cases and clinical review. Ann Endocrinol (Paris). 2011; 72(3): 239–243.
  17. Chang HJ, Clark RD, Bachman H. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet. 1990; 46(1): 156–167.
  18. Telvi L, Lebbar A, Del Pino O, et al. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics. 1999; 104(2 Pt 1): 304–308.
  19. De Groote K, Cools M, De Schepper J, et al. Cardiovascular pathology in males and females with 45,X/46,XY mosaicism. PLoS One. 2013; 8(2): e54977.
  20. Li Ll, Wu J, Dong Y, et al. Clinical and cytogenetic analysis of 45,X/46,XY individuals. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013; 30(5): 608–611.
  21. Nomura R, Miyai K, Okada M, et al. A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads. Clin Pediatr Endocrinol. 2015; 24(1): 11–14.
  22. Fiot E, Zenaty D, Boizeau P, et al. French Turner Syndrome Study Group. X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome. Eur J Endocrinol. 2016; 174(3): 281–288.
  23. Soares H, Maia A, Campos M, et al. Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report. Sao Paulo Med J. 2008; 126(5): 297–299.
  24. Knudtzon J, Aarskog D. 45,X/46,XY mosaicism. A clinical review and report of ten cases. Eur J Pediatr. 1987; 146(3): 266–271.
  25. El-Bassyouni HT, El-Gerzawy A, Eid O, et al. Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome. Genet Couns. 2013; 24(1): 37–44.
  26. Acherman JC, Hughes IA. Disorders of sex development. In: Melmed S, Polonsky KS, Reed Larsen P, Kronenberg HM, eds. Williams Textbook of Endocrinology 12th ed.Acherman JC, Hughes IA. ed. Saunders Elsevier, Philadelphia : 868–934.

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

Via MedicaWydawcą jest  VM Media Group sp. z o.o., Grupa Via Medica, ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl