RT Journal Article
SR Electronic
T1 Trends in age at diagnosis of Turner syndrome
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 267
OP 268
DO 10.1136/adc.2004.049817
VO 90
IS 3
A1 G Massa
A1 F Verlinde
A1 J De Schepper
A1 M Thomas
A1 J P Bourguignon
A1 M Craen
A1 F de Zegher
A1 I François
A1 M Du Caju
A1 M Maes
A1 C Heinrichs
A1 in collaboration with the Belgian Study Group for Paediatric Endocrinology
YR 2005
UL http://adc.bmj.com/content/90/3/267.abstract
AB 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.