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Cited by 8Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersImmunodeficiency and Autoimmune Disorders

Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience

Mohamed, Sarar, Roche, Edna F., Hoey, Hilary M.C.V.·2015·Journal of Pediatric Endocrinology and Metabolism
DOI 10.1515/jpem-2014-0287
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Abstract

BACKGROUND: Age at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS. METHODS: This was a retrospective evaluation of the clinical and laboratory records of patients with TS. RESULTS: Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases. CONCLUSIONS: Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.

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13 of 13 references verified0 citation errors · 0 not checkable

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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 [88]

  • Clinically apparent lymphedema occurs in 12%-27% of girls and women with TS.

    “Clinically apparent lymphedema occurs in 12%-27% of girls and women with TS.16,88,673”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [88]

Cites

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Authors
Mohamed, S., Roche, E. F., & Hoey, H. M. C. V.
Corresponding author
Mohamed, Sarar
ORCID
Venue
Journal of Pediatric Endocrinology and Metabolism
Publisher
Walter de Gruyter GmbH
Published
2015-01-01
Volume
28
Issue
11-12
Pages
1215-8
ISSN
  • 0334-018X (ISSN-L)
  • 2191-0251
DOI
10.1515/jpem-2014-0287
OpenAlex
W2332922630
Semantic Scholar
6376879c860d5b93c053db3892b0d03576b2663d
Cited by
8
References
7
Citations by year
2024: 1 · 2019: 2 · 2017: 3 · 2015: 2
FWCI
1.09
Type
journal article
Language
en
Open access
closed
Locations
  • Journal of Pediatric Endocrinology and Metabolism (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 › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Keywords
Turner syndrome, age at diagnosis, first clinical manifestation, chromosomal abnormalities, mosaicism, 45,X karyotype, short stature, delayed puberty, dysmorphic features, ring chromosomes, isochromosomes, translocation, deletion, Irish patients
MeSH terms
Adolescent, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Ireland, Karyotyping, Mosaicism, Phenotype, Prenatal Diagnosis, Retrospective Studies, Translocation, Genetic, Turner Syndrome, Chromosomes, Human, X, Symptom Assessment

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