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Cited by 4Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersCongenital Heart Disease Studies

Main physical features, echocardiographic and renal ultrasonographic findings of Turner syndrome in 107 pediatric patients

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Akalın, Akçahan, Ertuğrul, İlker, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Boduroğlu, Koray·2021·Molecular Syndromology
DOI 10.1159/000516816PMC PMC8613554
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Abstract

Turner syndrome (TS) is one of the most common malformation syndromes in females. A total number of 107 TS patients, diagnosed between 2000 and 2018, were evaluated for their phenotypic features, and cardiac and renal findings. The mean age of patients at admission was 10.08 ± 4.9 years (range, newborn to 18 years). Four different karyotype groups were encountered, and the most common findings in all groups were short stature, followed by cubitus valgus. Echocardiographic findings of 85 patients were available among which 63 (n = 63/85, 74.1%) were found to be normal. The most common cardiac anomaly was left ventricular outflow tract/aortic arch pathology detected in 9 patients (n = 9/22, 40.9%). Renal malformations were detected in 15 patients (n = 15/84, 17.9%) by renal ultrasonography, and horseshoe kidney was the most common renal malformation, followed by left multicystic dysplastic kidney. There was no significant difference in the frequency of renal malformation and cardiac anomalies among the 4different karyotype groups (χ2 exact test, p > 0.05). Compared with the literature, the frequency of renal anomalies was detected at a lower rate. Karyotype analysis should be carried out in all female patients with short stature, even if there are no associated phenotypic findings suggestive of TS. Since cardiac anomalies are frequently seen in TS patients and they represent a common cause of mortality, echocardiography should be carried out as soon as the definite diagnosis is established. Renal anomalies may be less frequent than cardiac anomalies; however, evaluation of TS patients with renal ultrasonography should be done at the time of diagnosis. Although renal ultrasonography can be used as the initial renal screening in TS patients, it may underestimate the frequency of renal malformation; hence, further management may be required.

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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 [685]

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Authors
Akalın, A., Ertuğrul, İ., Şimşek-Kiper, P. Ö., Utine, G. E., & Boduroğlu, K.
Affiliations
Hacettepe University (TR)
ORCID
Venue
Molecular Syndromology
Publisher
S. Karger AG
Published
2021
Volume
12
Issue
6
Pages
335-341
ISSN
  • 1661-8769 (ISSN-L)
  • 1661-8777
DOI
10.1159/000516816
PMC
PMC8613554
OpenAlex
W3195365116
Cited by
4
References
25
Citations by year
2025: 1 · 2024: 2 · 2023: 1
FWCI
0.42
Type
journal article
Language
en
Open access
Licence
Locations
  • Molecular Syndromology (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
Keywords
Turner syndrome, phenotypic traits, cardiac anomalies, renal anomalies, short stature, cubitus valgus, karyotype, left ventricular outflow tract obstruction, aortic arch anomalies, horseshoe kidney, multicystic dysplastic kidney, echocardiography, renal ultrasound, pediatric patients

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