Prevalence of renal malformation in Turner syndrome.
The presence of renal malformation was evaluated in 43 patients with Turner syndrome (TS) and compared with the karyotype in each case; 28 patients (65%) had a mosaic karyotype and the other 15 (35%) had only 45,X metaphases. Renal malformations characteristic of TS were found in 24% of the complete sample group. Of the 15 cases of pure 45,X karyotype, 8 (53%) had abnormal renal findings, while these were found in only 2 of the 28 mosaic cases (7.1%). The probability of this distribution having occurred by chance is P < 0.05. More than 50% of girls with TS are said to have a renal anomaly. In this study renal malformations were found in 25% of the sample group. A significantly greater association of renal malformation was found with monosomy 45,X than with mosaicism. As mosaicism occurs in up to 60% of all girls with TS, the lower figure reported here represents a truer prevalence than that quoted in older series, where the figures quoted applied only to the 45,X syndrome.
Flynn
M T
MT
Department of Paediatrics, National Childrens Hospital, Trinity College, Dublin, Ireland.
Ekstrom
L
L
De Arce
M
M
Costigan
C
C
Hoey
H M
HM
D002648:Child; D003582:Cytogenetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D009030:Mosaicism / Q000235:genetics / Q000473:pathology; D014424:Turner Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D014463:Ultrasonography