[Diagnosis of Turner's syndrome 1965-1989: karyotype, age at diagnosis and determining signs].
Early diagnosis of Turner's syndrome makes possible optimal application of all procedures of substitution and symptomatic therapy and offers also psychological support to the parents and the patients. In 1965-1989 in two centres 135 girls with Turner's syndrome were detected, 72 with karyotype 45, X, 63 with a chromosomal mosaic and/or structural anomaly. Girls and women with karyotype 45, X are detected sooner (9.4 +/- 6.9 years, as compared with 14.2 +/- 8.1 years, p = 0.0003). Before the age of three 28% of the girls with karyotype 45, X were detected (by congenital lymphoedemas, coarctation of the aorta, poor progress), only 9% of the others. Growth impairment revealed the diagnosis in 27% of the affected girls. Girls with karyotype 45, X were diagnosed on account of impaired growth sooner (7.9 +/- 2.2 years as compared with 11.8 +/- 2.7 years, p = 0.00005). At a time when the diagnosis of girls with karyotype was practically completed, 16% of the spontaneously maturing and menstruating women with chromosomal mosaic where the syndrome was detected during examination of sterility or habitual abortion were still not diagnosed.
Lebl
J
J
II. dĕtská klinika 2. LF UK, Praha-Motol.
Goetz
P
P
Hurtová
M
M
Klabochová
J
J
Losan
F
F
D000367:Age Factors; D005260:Female; D006801:Humans; D007621:Karyotyping; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
Diagnostika Turnerova syndromu 1965-1989: karyotyp, vĕk pri diagnóze a rozhodující príznak.