title: Increased prevalence of autoimmunity in Turner syndrome--influence of age.
abstract: Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions such as coeliac disease (CD), thyroiditis and type 1 diabetes (T1DM). The objective of the present study was to examine TS of various karyotypes for autoantibodies and corresponding diseases. This was investigated in a prospective cross-sectional study of Danish TS patients (n = 107, median age 36.7 years, range: 6-60 years). A medical history was recorded and a blood sample was analysed for autoantibodies against gliadin, transglutaminase, adrenal cortex, intrinsic factor, anti-thyroid peroxidase (anti-TPO) and glutamic-acid-decarboxylase 65 (GAD-65). Autoantibodies were present in 58% (n = 61) of all patients, whereof 18% (11) had autoantibodies targeting more than one organ. Patients with autoantibodies were significantly older than those without (P = 0.001). Anti-TPO was present in 45% (48) of patients, of whom 33% (16) were hypothyroid. Overall, 18% (19) presented with CD autoantibodies, of whom 26% (five) had CD. Anti-TPO and CD autoantibodies co-existed in 9% (10). Immunoglobulin A deficiency was found in 3% (three) of patients, who all had CD autoantibodies without disease. Among four patients with anti-GAD-65 none had T1DM, but two were classified as having T2DM. One patient had adrenocortical autoantibodies but not adrenal failure. Autoantibodies against intrinsic factor were absent. Anti-GAD-65 was increased in isochromosomal karyotypes (3/23 versus 1/84, P = 0.008) with no other association found between autoantibodies and karyotype. In conclusion, TS girls and women face a high prevalence of autoimmunity and associated disease with a preponderance towards hypothyroidism and CD. Thus, health care providers dealing with this patient group should be observant and test liberally for these conditions even before clinical symptoms emerge.
authors.affiliation: Medical Department M (Endocrinology and Diabetes), Aarhus University Hospital, Aarhus C, Denmark. kristian.havmand@ki.au.dk
authors.forename: K H
authors.initials: KH
authors.lastname: Mortensen
authors.forename: L
authors.initials: L
authors.lastname: Cleemann
authors.forename: B E
authors.initials: BE
authors.lastname: Hjerrild
authors.forename: E
authors.initials: E
authors.lastname: Nexo
authors.forename: H
authors.initials: H
authors.lastname: Locht
authors.forename: E M
authors.initials: EM
authors.lastname: Jeppesen
authors.forename: C H
authors.initials: CH
authors.lastname: Gravholt
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging / Q000276:immunology*; D001323:Autoantibodies / Q000097:blood; D001327:Autoimmune Diseases / Q000150:complications* / Q000276:immunology; D002446:Celiac Disease / Q000150:complications / Q000276:immunology; D016009:Chi-Square Distribution; D002648:Child; D003430:Cross-Sectional Studies; D003924:Diabetes Mellitus, Type 2 / Q000276:immunology; D005260:Female; D005968:Glutamate Decarboxylase / Q000276:immunology; D006801:Humans; D007037:Hypothyroidism / Q000150:complications / Q000276:immunology; D017098:IgA Deficiency / Q000150:complications / Q000276:immunology; D007453:Iodide Peroxidase / Q000276:immunology; D008875:Middle Aged; D015995:Prevalence; D011446:Prospective Studies; D012306:Risk; D014424:Turner Syndrome / Q000150:complications / Q000276:immunology*; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D007453:Iodide Peroxidase; D005968:Glutamate Decarboxylase; C401141:glutamate decarboxylase 2