Renal malformations in patients with Turner syndrome: imaging in 141 patients
Abstract
Turner syndrome occurs in 1/2,000 to 1/5,000 live female births. The presence of renal malformations was evaluated in 141 patients with Turner syndrome and abnormalities were found in 47 (33%). Prior to 1980, IVP was the radiologic method used for initial screening, and subsequently, ultrasonography has been used as the initial imaging technique. With both methods, major malformations can be detected. Ten patients had a horseshoe kidney, 11 had double collecting systems, four had complete absence of one kidney, three had crossed ectopia, and one had a pelvic kidney. Three patients had ureteropelvic junction obstruction; two of these were asymptomatic and the obstructions were detected only because of the routine imaging. Two patients had ureterovesicular junction obstruction, with one studied as part of a routine evaluation for short stature. Four of these five patients required surgery. Ultrasonography should be used as the initial renal imaging study for all patients at the time the diagnosis of Turner syndrome is made.
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Congenital anomalies of the kidney and urinary tract are common in TS, with highly variable reported occurrence rates ranging between 18% and 60%.
“Congenital anomalies of the kidney and urinary tract are common in TS, with highly variable reported occurrence rates ranging between 18% and 60%.683-686”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [683]
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Renal Problems in Early Adult Patients with Turner Syndrome
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- Authors
- Lippe, B., Geffner, M. E., Dietrich, R. B., Boechat, M. I., & Kangarloo, H.
- Affiliations
- University of California, Los Angeles (US)
- Venue
- PEDIATRICS
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 1988-12-01
- Volume
- 82
- Issue
- 6
- Pages
- 852-856
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W1485819175
- Cited by
- 122
- References
- 0
- Citations by year
- 2026: 1 · 2024: 6 · 2023: 5 · 2022: 3 · 2021: 7 · 2020: 5 · 2019: 2 · 2018: 7 · 2017: 2 · 2016: 3 · 2015: 9 · 2014: 4 · 2013: 8 · 2012: 5
- FWCI
- 0.56
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- PEDIATRICS (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pediatric Urology and Nephrology Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Urology › Urological Disorders and Treatments
- Keywords
- Turner syndrome, renal anomalies, horseshoe kidney, renal ectopia, pelvic kidney, ureteropelvic junction obstruction, ureterovesical junction obstruction, ultrasonography, intravenous urography, kidney imaging, congenital kidney anomaly
- MeSH terms
- Female, Humans, Karyotyping, Kidney, Magnetic Resonance Imaging, Radiography, Turner Syndrome, Ultrasonography
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