title: Prevalence of renal malformation in Turner syndrome.
abstract: 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.
authors.affiliation: Department of Paediatrics, National Childrens Hospital, Trinity College, Dublin, Ireland.
authors.forename: M T
authors.initials: MT
authors.lastname: Flynn
authors.forename: L
authors.initials: L
authors.lastname: Ekstrom
authors.forename: M
authors.initials: M
authors.lastname: De Arce
authors.forename: C
authors.initials: C
authors.lastname: Costigan
authors.forename: H M
authors.initials: HM
authors.lastname: Hoey
mesh_terms: 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