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



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.



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.



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. 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).
Agnieszka
A
Frelich
Jakub
J
Frelich
Wacław
W
Jeż
Department of Health Promotion and Community Nursing, Faculty of Health Sciences, Medical University of Silesia, Katowice, Poland; Department of Nephrology/ENDO Hospital of the Ministry of Interior Affairs, Katowice, Poland. tirzyniec@sum.edu.pl.
Tomasz
T
Irzyniec
D000293:Adolescent; D000328:Adult; D002877:Chromosomes, Human; D005260:Female; D006801:Humans; D059785:Karyotype; D008209:Lymphedema / Q000235:genetics*; D009056:Mouth Abnormalities / Q000235:genetics* / Q000473:pathology; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
45; Turner syndrome; X/46; XY karyotype; head; neck