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Trends in age at diagnosis of Turner syndrome
  1. G Massa1,
  2. F Verlinde1,
  3. J De Schepper2,
  4. M Thomas1,
  5. J P Bourguignon3,
  6. M Craen4,
  7. F de Zegher5,
  8. I François5,
  9. M Du Caju6,
  10. M Maes7,
  11. C Heinrichs8,
  12. in collaboration with the Belgian Study Group for Paediatric Endocrinology
  1. 1Belgian Study Group for Paediatric Endocrinology
  2. 2Department of Paediatrics of the University of Brussels, Belgium
  3. 3Department of Paediatrics of the University of Liège, Belgium
  4. 4Department of Paediatrics of the University of Ghent, Belgium
  5. 5Department of Paediatrics of the University of Leuven, Belgium
  6. 6Department of Paediatrics of the University of Antwerp, Belgium
  7. 7Department of Paediatrics of the University of Louvain, Belgium
  8. 8Department of Paediatrics of the University of Bruxelles, Belgium
  1. Correspondence to:
    Dr G Massa
    Department of Pediatrics, University of Bruxelles, Av. J.J. Crocq 15, 1020 Bruxelles, Belgium; guy.massascarlet.be

Abstract

The age at diagnosis of 242 girls with Turner syndrome (TS) treated in Belgium with growth hormone between 1991 and 2002 was evaluated. The median (range) age at diagnosis was 6.6 (0–18.3) years. Patients with 45,X karyotype were diagnosed earlier than patients with other karyotypes. Compared to a previous survey, performed on 100 patients 12 years earlier, more patients were diagnosed during infancy and childhood, and less during adolescence. However, in 22% of the girls the diagnosis was made after the age of 12 years; these girls showed the largest height deficit. As early diagnosis has several potential advantages we recommend that a cytogenetic analysis should be considered in all girls with unexplained short stature with height below –2 SD of the mean for age or below the parent specific lower limit of height.

  • Turner syndrome
  • diagnosis
  • short stature
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Footnotes

  • This work was supported by grants from the Foundation of the Belgian Study Group for Pediatric Endocrinology

  • Competing interests: none declared

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