open access

Vol 68, No 1 (2017)
Original papers
Published online: 2016-10-14
Submitted: 2016-05-15
Accepted: 2016-06-14
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 Frelich, Wacław Jeż, Tomasz Irzyniec
DOI: 10.5603/EP.a2016.0063
·
Endokrynologia Polska 2017;68(1):47-52.

open access

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

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)

Pages

47-52

Published online

2016-10-14

DOI

10.5603/EP.a2016.0063

Bibliographic record

Endokrynologia Polska 2017;68(1):47-52.

Keywords

Turner syndrome
45
X/46
XY karyotype
head
neck

Authors

Agnieszka Frelich
Jakub Frelich
Wacław Jeż
Tomasz Irzyniec

Important: This website uses cookies.tanya dokter 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 serwisu jest  "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk

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