Prevalence of multiple forms of autoimmunity in Egyptian patients with Turner syndrome: relation to karyotype

Abstract

Our study aimed to investigate: the prevalence of autoantibodies related to organ-specific disease; the prevalence of some autoimmune diseases (AID) in Egyptian Turner syndrome (TS) patients; and the association of autoimmunity with patients' karyotypes. Eighty TS patients were subjected to history, auxological assessment and measurement of antithyroid peroxidase antibody (ATPOAb), antithyroglobulin antibody (ATGAb), anti-tissue transglutaminase IgA antibodies (ATTIgAAb), anti-glutamic acid decarboxylase-65 antibodies (GAD-65-Ab) and anti-adrenal cortex antibodies (AACAb). Of the 80 TS patients, 54 (67.5%) were seropositive for one or more autoantibodies. Thirty-five percent were positive for ATPOAb, 15% for ATGAb, 12.5% for ATTIgAAb, 3.75% for Anti-GAD-65Ab and 1.25% for AACAb. There was a non-significant association between the 45,X karyotype and overall prevalence of autoantibodies (p=0.20), while IsoXq was associated with increased prevalence of ATPOAb (p<0.01), ATGAb (p=0.01) and anti-GAD-65Ab (p=0.02). Thus, female TS patients face a high prevalence of autoimmunity and associated AID.

Endocrine autoimmunity in Turner syndrome

“…In keeping with previous studies [12,17,20], no cases of Graves’ disease were observed in our investigation. By contrast, Graves’ disease was observed in 2 out of 84 TS patients (2.5%) versus 0.5-1% in the general population in a study by Livadas et al [17].…”

“…In the study by Livadas et al [17], 71% of patients with IsoXq had positive Abs and over 41 to 47% presented the other karyotipic abnormalities. In a study by Hamza et al [20], there was no statistically significant association between karyotype 45,X and the overall prevalence of Abs. On the contrary, a significant association was confirmed between IsoXq and the increased prevalence of anti-TPO, anti-Tg Abs and GADA, whereas, this karyotype was not associated with anti-transglutaminase Abs.…”

“…The prevalence was 7% below 30 years of age and 14% above 30 years. An investigation conducted in Egypt in 2012 [20], showed that out of a cohort of 80 TS patients, 67.5% were seropositive for one or more Abs.…”

“…Although statistical significance was not achieved, according to several studies, the overall frequency of thyroid autoimmunity was higher in TS patients with X isochromosome i(X)(p10) karyotype [12,17-20]. …”

21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I

“…Addison disease has not been reported to occur more frequently among TS than in the general population, although an increased frequency of Addison disease among individuals with primary ovarian failure has been reported [19]. Previously, we and others have reported the prevalence of 21-OH antibodies in TS to be between 0 and 1% [2,7,20], which is fairly comparable to the prevalence reported among healthy subjects [21]. In the present study, 4% of the subjects had 21-OH antibodies above the positive threshold, although just slightly above the threshold in five of the six subjects.…”