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Title: Trends in age at diagnosis of Turner syndrome
Authors: Massa, G
Verlinde, F
De Schepper, Johan
Thomas, M
Bourguignon, J P
Craen, M
de Zegher, Francis
Francois, Inge
Du Caju, M
Maes, M
Heinrichs, C #
Issue Date: Mar-2005
Publisher: B m j publishing group
Series Title: Archives of disease in childhood vol:90 issue:3 pages:267-8
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.
ISSN: 0003-9888
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Newborn (-)
Pediatric Hematology & Oncology Section (-)
# (joint) last author

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