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Cited by 180Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersGenomics and Rare Diseases

Delayed diagnoses of Turner's syndrome: proposed guidelines for change

Sävendahl, Lars, Davenport, Marsha L.·2000·The Journal of Pediatrics
DOI 10.1067/mpd.2000.107390
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Abstract

Objective To measure the delays in diagnosis of Turner's syndrome (TS) and to propose strategies for earlier screening and diagnosis.Methods The medical records of 81 girls with TS were reviewed for age at diagnosis, reason(s) for karyotype analysis, and clinical features including growth failure. Delay in diagnosis was calculated as equal to age at diagnosis for children born with lymphedema and/or 2 or more of the following dysmorphic features: webbed neck, nail dysplasia, high palate, and short fourth metacarpal. For all others, delay in diagnosis was calculated as the difference between the age at which height fell below the 5th percentile and the age at which the diagnosis of TS was made.Results Lymphedema was the key to diagnosis in 97% of the girls diagnosed with TS in infancy, and short stature was the key to diagnosis for 82% of the girls diagnosed in childhood or adolescence. For girls diagnosed in childhood or adolescence, the delay in diagnosis averaged 7.7 +/- 5.4 years. Many had dysmorphic features and/or a history of lymphedema at birth, and diagnosis was made an average of 5.3 years after patients had fallen below the 5th percentile for height. By the time of diagnosis, patients were very short, averaging -2.9 SD in height.Conclusions The diagnosis of TS is often delayed. We recommend karyotype analysis for all girls with unexplained short stature, delayed puberty, webbed neck, lymphedema, or coarctation of the aorta. Furthermore, karyotype analysis should be strongly considered for those who remain above the 5th percentile for height but have 2 or more features of TS, including high palate, nail dysplasia, short fourth metacarpal, and strabismus.

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  • When girls with TS are not identified in infancy by characteristic features such as lymphedema and webbed neck, the diagnosis is often made years after growth failure ensues, and sometimes little or no growth potential remains.

    “When girls with TS are not identified in infancy by characteristic features such as lymphedema and webbed neck, the diagnosis is often made years after growth failure ensues, and sometimes little or no growth potential remains.28,85-88”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [85]

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Authors
Sävendahl, L., & Davenport, M. L.
Affiliations
University of North Carolina at Chapel Hill (US)
Venue
The Journal of Pediatrics
Publisher
Elsevier BV
Published
2000-10
Volume
137
Issue
4
Pages
455-459
ISSN
0022-3476 (ISSN-L)
DOI
10.1067/mpd.2000.107390
OpenAlex
W1963970287
Cited by
180
References
30
Citations by year
2026: 1 · 2025: 2 · 2024: 12 · 2023: 11 · 2022: 3 · 2021: 10 · 2020: 4 · 2019: 9 · 2018: 12 · 2017: 7 · 2016: 8 · 2015: 9 · 2014: 6 · 2013: 10 · 2012: 5
FWCI
1.73
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • The Journal of Pediatrics (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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
Turner syndrome, delayed diagnosis, karyology, short stature, lymphedema, webbed neck, dysmorphic features, growth failure, screening guidelines, delayed puberty, coarctation of the aorta, nail dysplasia
MeSH terms
Adolescent, Child, Child, Preschool, Clinical Protocols, Female, Humans, Infant, Infant, Newborn, Karyotyping, Pregnancy, Prenatal Diagnosis, Time Factors, Turner Syndrome

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