Trends in age at diagnosis of Turner syndrome

Arch Dis Child. 2005 Mar;90(3):267-8. doi: 10.1136/adc.2004.049817.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age Factors
  • Age of Onset
  • Body Height
  • Child
  • Child, Preschool
  • Early Diagnosis
  • Female
  • Follow-Up Studies
  • Growth Hormone / therapeutic use
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping / methods
  • Turner Syndrome / diagnosis*
  • Turner Syndrome / drug therapy
  • Turner Syndrome / genetics

Substances

  • Growth Hormone