Research

Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

Annika E Stenberg^{* 1} , Lisskulla Sylvén^{* 2} , Håkan Hedstrand^{* 3} , Olle Kämpe^{* 3} and Malou Hultcrantz^{* 1}

¹Dept. of Otorhinolaryngology, Karolinska University Hospital, Solna, Sweden

²Dept. of Woman and Child Health, Karolinska University Hospital, Solna, Sweden

³Dept. of Medical Sciences, University Hospital, Uppsala, Sweden

author email corresponding author email* Contributed equally

Journal of Negative Results in BioMedicine 2007, 6:10doi:10.1186/1477-5751-6-10

Published:	18 December 2007

Abstract

Background

A disturbance in the immune system has been described in Turner syndrome (45,X), with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X), thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite.

Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency) ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies.

Blood samples from 110 Turner patients (7–65 years) were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase).

Results

The autoantibodies investigated were not overrepresented among the Turner patients.

Conclusion

The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome.