Age and height at diagnosis in Turner syndrome: influence of parental height

Age and height at diagnosis was studied in 100 patients with Turner syndrome: 41 with the 45,X karyotype and 59 with various other karyotypes. In 15 patients diagnosis was made at birth. In the remaining patients median age at diagnosis was 12.9 years in those with 45,X karyotype and 11.6 years in the others. Mean +/- SD height standard deviation score at diagnosis was -3.2 +/- 0.9 for the patients with 45,X karyotype and -2.8 +/- 0.9 for the others. A significantly negative correlation was found between age and height standard deviation score at diagnosis (r = - .51; P less than .005). Corrected mid parental height was significantly correlated with height standard deviation score at diagnosis (r = .49; P less than .005), but not with age at diagnosis (r = -.08). It is concluded that although Turner syndrome is a congenital disorder, the diagnosis is usually made too late, at a chronological age when a marked height deficit is present. To make an early diagnosis, a cytogenetic examination should be recommended for all girls with height more than 2 SD below the mean for age or more than 2 SD below corrected mid parental height.