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Region Hovedstaden - en del af Københavns Universitetshospital
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21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I

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OBJECTIVE: Turner syndrome (TS) is associated with an increased frequency of autoimmunity. Frequently observed autoimmune diseases in TS are also seen in the autoimmune polyendocrine syndrome type I (APS I), of which Addison disease is a key component. An overlapping antibody profile between TS and APS I could be considered.

AIM: To study women with TS regarding 21-hydroxylase autoantibodies (21-OH Abs) and interferon omega antibodies (INF-ω Abs), a highly specific marker for APS I, to see if there are immunological overlaps between TS and APS I.

PARTICIPANTS AND METHODS: Blood samples from 141 TS were assayed for 21OH-Abs and INF-ω Abs using in vitro transcribed and translated autoantigen. Indexes with a cut-off point of 57 and 200 for 21OH-Ab and INF-ω Ab were used as reference.

RESULTS: The median age of TS was 31.6 years (range: 11.2-62.2). Positive indices of 21-OH Abs were present in six TS (4%) with a mean of 144.8 (range: 60-535). None had apparent adrenal insufficiency. There was no age difference comparing 21-OH Ab positive TS (median age: 33.9 years, range: 17.7-44.7) and 21-OH Ab negative TS (median age: 31.6 years, range: 11.2-62.2) (P=0.8). None TS were positive for INF-ω Abs (mean: 42.4, range: -435-191).

CONCLUSION: No overlapping autoimmune profile between TS and APS I was found. Autoimmunity against 21-OH among TS was more prevalent than previously identified suggesting an increased risk of adrenal failure in TS. However, whether adrenal impairment will develop remains unknown. This article is protected by copyright. All rights reserved.

OriginalsprogEngelsk
TidsskriftClinical and Experimental Immunology
Vol/bind195
Udgave nummer3
Sider (fra-til)364-368
ISSN0009-9104
DOI
StatusUdgivet - mar. 2019

ID: 55540518