New insights into clinical features, karyotypes, and age at diagnosis in women with Turner syndrome

INTRODUCTION: Turner syndrome (TS) is due to a chromosomal abnormality in which only one normal X chromosome is present. The purpose of the study was the assessment the prevalence of phenotypic differences in TS-women and monosomy-45,X and with other karyotypes as well as the possible relationship between the presence of differentiating features and age at final TS diagnosis. MATERIAL AND METHODS: The prevalence of anomalies and abnormalities from history taking/physical examination of 157 TS-patients was compared to 25 healthy controls (age 27.3 ± 4.5 years). The age at TS-symptom occurrence and final TS diagnosis was also analysed. RESULTS: Ninety-three TS women with 45,X (25.2 ± 7.1y) and 64 with other karyotypes (non-45,X) (age 24.1 ± 8.2 years) had lower growth than controls (144 ± 7.6 and 145.7 ± 6.8 vs. 165.8 ± 6.6 cm, respectively; p < 0.001). Only 15 and 12 out of 37 non-gynaecological features occurred more frequently in 45,X and non-45,X, compared to controls. 45,X and non-45,X wpmen did not differ in terms of body height. Out of 60 study parameters, only nine differed significantly between 45,X TS women and those with other karyotypes. Mean age at TS-symptom occurrence (45,X: 6.8 ± 5.4 years; non-45,X: 10.3 ± 5.2 years; p < 0.001) and final TS diagnosis (45,X: 13.2 ± 8 years; non 45,X: 17 ± 8.2 years; p = 0.004) differed between TS groups. CONCLUSIONS: 1. The prevalence of the majority of clinical manifestations of Turner syndrome does not differ between TS women with 45,X monosomy and non-45,X karyotypes. 2. Certain manifestations of Turner syndrome are more prevalent in women with non-45,X karyotypes compared to those with 45,X monosomy. 3. Clinical manifestations, the prevalence of which differs between TS-women with non-45,X karyotypes and 45,X monosomy, might help lower the age at diagnosis.