The DOI matches its Crossref record.
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%.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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Items 101–122 of 122
Congenital and Development Disorders of the Kidney
Donoghue, V. B. (2010) · Medical radiology · doi:10.1007/978-3-540-87597-0_11
infancy to adult transfer Optimising management in Turner syndrome: from
Donaldson, M., Gault, E. J., Tan, K. W., & Dunger, D. B. (2007)
Mick, T. J. (2013) · Clinical Imaging · doi:10.1016/b978-0-323-08495-6.00008-7
[Fibro-urothelial polyp in a horseshoe kidney in the case of Turner syndrome].
Tanneau, Y., Pfister, C., Ferhi, K., et al. (2004) · PubMed
Afshar, Y., & Platt, L. D. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-44548-1.00152-2
Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations
Backeljauw, P. F., & Gutmark‐Little, I. (2018) · Springer eBooks · doi:10.1007/978-3-319-73782-9_6
Renal Disorders and Systemic Hypertension
Miyashita, Y., & Flynn, J. T. (2020) · Springer eBooks · doi:10.1007/978-3-030-34150-3_7
Prenatal Diagnosis of Fetal Malformations by Ultrasound
van Leeuwen, E., Lugthart, M. A., & Pajkrt, E. (2021) · Wiley eBooks · doi:10.1002/9781119676980.ch17
A Rare Case of Horseshoe Kidney with Unilateral Chronic Pyelonephritis in a Cadaver
Balasubramanian, R., Pattanshetti, S. V., Kangle, R. P., et al. (2021) · Journal of the Scientific Society · doi:10.4103/jss.jss_59_21
Davenport, M. L., ROSS, J. L., & Backeljauw, P. F. (2013) · Humana Press eBooks · doi:10.1007/978-1-60761-395-4_7
Congenital and Development Disorders of the Kidney
Donoghue, V. B. (2014) · Medical radiology · doi:10.1007/978-3-642-54047-9_11
Milla, S. S., & Bixby, S. D. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-6206-6.10270-6
Anomalies of Kidney Rotation, Position and Fusion
Benz-Bohm, G. (2001) · Medical radiology · doi:10.1007/978-3-642-59428-1_3
Lin, A. E., & Crenshaw, M. (2020) · Wiley eBooks · doi:10.1002/9781119432692.ch60
Lachman, R. S. (2007) · Elsevier eBooks · doi:10.1016/b978-0-323-01931-6.50028-1
Melovitz‐Vasan, C., Huff, S., & Vasan, N. S. (2023) · Italian Journal of Anatomy and Embryology · doi:10.36253/ijae-14048
“Analysis of patients with Turner syndrome revealed that 33% of patients studied had some renal malformations, with HSK occurring in 7% of these, rendering support to the genetic theory (Lippe et al., 1988).”
ResultPrenatal Diagnosis of Turner Syndrome Mosaicism: A Case Report
Abulatan, I., Mbara, N., & Fakoya, A. O. J. (2024) · Cureus · doi:10.7759/cureus.71371
“Common renal/urinary tract abnormalities found in Turner’s syndrome include the horseshoe kidney system, duplex collecting system, complete absence of one kidney, crossed ectopia, and pelvic kidney [3].”
BackgroundGrowth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations
Gutmark‐Little, I., Muthuvel, G., & Backeljauw, P. F. (2024) · Springer eBooks · doi:10.1007/978-3-031-66296-6_6
Styne, D. M. (2002) · Humana Press eBooks · doi:10.1007/978-1-59259-277-7_20 · Cited by 2
Pantham, P., Aleksejeva, E., Barreiro, K. A., Burger, D. E., Burnett, L. A., Fisher, M. A., Leivo, J., Martens, E., Ng, M. S. Y., Nolan, J., et al. (2026) · American Journal of Physiology-Renal Physiology · doi:10.1152/ajprenal.00402.2025
Phenotypic Correlations of X-Chromosome Loss
Neely, E. K., & Rosenfeld, R. G. (1994) · Elsevier eBooks · doi:10.1016/b978-0-12-728960-1.50018-5 · Cited by 1
Sharma, A., Jamil, M. A., Nuesgen, N., Schreiner, F., Priebe, L., Hoffmann, P., Herns, S., Nöthen, M. M., Fröhlich, H., Oldenburg, J., et al. (2015) · Clinical Epigenetics · doi:10.1186/s13148-015-0112-2 · Cited by 81
Metadata
- 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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