Cytogenetic And Clinical Study Of Childhood Turner Syndrome

Objective:1.To investigate the possible relationship between karyotype and phenotype of Turner Syndrome.2.To determine the influence of the parental origin of the X chromosome on clinical and on the biochemical phenotype of TS patients.Methods:1.A total of 71 patients with Turner Syndrome from pediatric endocrine clinic of China-Japan Friendship Hospital、Pacific Alliance Medical Center、Shanghai Xinhua Hospital. Peking University Third Hospital from February 2005 to December 2014 and divided into two groups according to the kayotypes:45X0 and other karyotypes including isochromosome. mosaicism、ring X chromosome、Y chromosome、Xp or Xq Deletion、Mar chromosome and other types. Clinical features of the two groups were retrospectively analyzed.2.The karyotype of 26 patients with Turner Syndrome were studied. Karyotype inclusion criteria were as follows:45X0.46Xdel(Xp)、46Xi(xq). Then the parental origin of the intact X chromosome were determined through several Short Tandem Repeats of gene DMD which was on Xp21.2 and separate them into two groups:group Xm from mothers and group Xp from fathers. The effect of the parental origin of the intact X chromosome on the clinical features was investigated.Results:1.Of the 71 patients in the study,29 were diagnosed with classical monosomy 45X0 and the others with other X chromosome abnormalities. Short stature were higher in group 45X0, appearing in 29 (100%) patients in this group, and appearing in 35(83.3%)patients in group of other karyotypes and there were statistical significance between two groups (P<0.05). Other clinical features such as obesity、impaired glucose tolerance or diabetes、cardiovascular anomaly、renal anomaly、impaired hearing、GH deficiency were similar in the two groups (P>0.05).2.0f the 26 patients with TS,21 (80.8%) patients were Xm with the mean age of (8.6±4.5) years、median age of 9.0 years and 5 (19.2%) patients with Xp with the mean age of (10.2±4.8) years、median age of 10.3 years. No big difference were found in age in the two groups (P=0.73).No difference was found in the various deformities of organs and dysfunction (including cardiovascular anomaly、renal anomaly、hypothyroidism、impaired glucose tolerance or diabetes、GH deficiency)、serum level of sex hormone (FSH、 LH、E2) in the two groups (P>0.05). Although no difference was found in the serum level of low density lipoprotein、high density lipoprotein、total cholesterol in the two groups (P>0.05), serum level of triglycerides was higher in group Xp than group Xm, which had statistic significance (P=0.00).The pre-treatment height of group Xm was (-2.2±0.6) SDS, with the mid parental height (-0.2±0.7) SDS, the bone age delay (0.7±1.0) years, while the pre-treatment height of group Xp was (-2.6±0.5) SDS, with the mid parental height (0.5±1.0) SDS, the bone age delay (1.6±1.2) years, with no statistic difference between the two groups (P> 0.05). There was no correlation between paternal height and patient height (P>0.05). The dosage of the GH treatment was similar between group Xm and group Xp (P=0.23). The mean height gain after 1 year of GH treatment in the Xm and Xp groups were (0.4±0.7) SDS、(0.5±0.6) SDS with no statistic difference (P=0.52), for chronological age, (0.2±0.4) SDS、(0.3±0.3) SDS for bone age with no statistic difference (P=0.74).Conclusion:1.This study suggests that karyotype might affect the phenotype of TS. But in clinical practice, chromosomal analysis for all suspected cases of TS is strongly suggested to confirm the diagnosis.2.This study doesn’t find the effect of parental origin of X chromosome on organic deformation and dysfunction、the response to growth hormone、ovarian function. Parental origin of X chromosome may have an effect on the serum level of triglyceride which needs to be addressed by further research.