Cited by 15Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesPediatric Urology and Nephrology StudiesSexual Differentiation and Disorders

Renal anomalies in patients with Turner syndrome: is scintigraphy superior to ultrasound?

Hamza, Rasha T., Shalaby, Mennatallah H., Hamed, Laith S., Abdulla, Dunya B. A., Elfekky, Sahar M., Sultan, Omar M.·2016·American Journal of Medical Genetics Part A

Abstract

Renal anomalies are present in up to 30% of patients with Turner syndrome (TS). Renal ultrasound (U/S) detects anatomical renal anomalies only while renal scintigraphy detects anomalies, detects early renal malfunction, and estimates glomerular filtration rate (GFR). Thus, we aimed to assess frequency of renal abnormalities detected by scintigraphy in comparison to renal U/S in TS patients. Ninety TS patients were subjected to auxological assessment, measurement of serum creatinine; and renal U/S and scintigraphy. Renal U/S detected renal anomalies in 22.22% of patients versus 17.78 % detected by scintigraphy (P = 0.035). Scintigraphy detected renal functional abnormalities in 44.44% of patients in the form of subnormal total GFR, abnormal renogram curve pattern, improper tracer handling and perfusion; and difference in split renal function >10% between both kidneys. Patients with a 45,X karyotype had more renal functional abnormalities (56%) than those with mosaic karyotype (33.33%), P = 0.04. In conclusion, renal scintigraphy is not superior to U/S in detection of renal anomalies but is a reliable method for early detection of renal malfunction in TS patients especially those with 45,X to ensure early management to offer a better quality of life.

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Crossref · 10.1002/ajmg.a.37425

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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”

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References 14 · Cited by 15

Authors
Hamza, R. T., Shalaby, M. H., Hamed, L. S., Abdulla, D. B. A., Elfekky, S. M., & Sultan, O. M.
Affiliations
Ain Shams University (EG)
Corresponding author
Hamza, Rasha T.
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2015-11-30
Volume
170
Issue
2
Pages
355-362
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
OpenAlex
W2174398542
Cited by
15
References
14
Citations by year
2026: 1 · 2025: 3 · 2024: 1 · 2022: 1 · 2021: 3 · 2020: 2 · 2019: 2 · 2018: 1
FWCI
0.23
Type
journal article
Language
en
Open access
closed
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pediatric Urology and Nephrology Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
Turner syndrome, renal anomalies, renal scintigraphy, renal ultrasound, glomerular filtration rate, renal function, 45,X karyotype, mosaicism, split renal function, early detection of renal dysfunction
MeSH terms
Adolescent, Adult, Child, Child, Preschool, Cross-Sectional Studies, Female, Glomerular Filtration Rate, Humans, Karyotyping, Kidney Diseases, Kidney Function Tests, Prognosis, Quality of Life, Radionuclide Imaging, Turner Syndrome, Ultrasonography, Young Adult

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