Endocrine Abstracts

Background: Turner syndrome (TS) predisposes to autoimmune diseases such as thyroiditis, coeliac disease, diabetes mellitus type 1, inflammatory bowel diseases, alopecia and vitiligo. The prevalence of autoimmunity increases with age and more than one autoimmune disease can coexist together in one patient. The possible factors leading increased autoimmunity in TS are not clear.

Aim: To compare the panel of autoimmunity markers in 37 TS girls (40.5% with 45,X) with the control group of 11 short healthy girls.

Method: Morning blood tests were performed to analyze total lymphocytes, CD3, CD4, CD8 CD4/CD8. CD19, NK, Treg, IgA, IgM, IgG, TGFβ, IL10, anti-TPO, anti-TG and anti-GAD.

Results: The mean ± S.D. age and BMI values in both, study and control, groups were comparable (11.9±4.1 vs 12.5±4.0 years; 19.2±3.3 vs 19.7±4.6 kg/m², P>0.05). TS girls presented lower IgG concentration, CD4% and lower CD4/CD8 ratio comparing to healthy controls (9.1 vs 11.5, P=0.02; 32.6% vs 40.4%, P=0.0004; 1.2 vs 1.8, P=0.0005). Further analysis showed that CD4% was the lowest (P=0.001) in girls with isoXq who showed also the highest incidence of elevated thyroid antibodies. Although without statistical significance but girls with three copies of genes from Xq presented also the lowest Treg and the highest CD8. The remaining laboratory markers were comparable between study and control group and did not show any difference when girls with 45,X, 45,X/46,XX and other TS karyotypes were analyzed separately.

Conclusions: We confirm in TS the lower ratio of CD4/CD8 but in contrast to previous studies, besides girls with isoXq, it was not the result of higher number of CD8. IsoXq was found a risk factor for higher incidence of autoimmunity in TS.