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

Clin Exp Immunol. 2019 Mar;195(3):364-368. doi: 10.1111/cei.13231. Epub 2018 Nov 14.


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. The aim of this work was to study women with TS regarding 21-hydroxylase (21-OH) antibodies and interferon omega (IFN-ω) antibodies, a highly specific marker for APS I, to determine if there are immunological overlaps between TS and APS I. Blood samples from 141 TS were assayed for 21-OH antibodies and IFN-ω antibodies using in-vitro-transcribed and translated autoantigen. Indices with a cut-off point of 57 and 200 for 21-OH antibody and IFN-ω antibody were used as reference. The median age of TS was 31·6 years (range = 11·2-62·2). Positive indices of 21-OH antibodies 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 antibody-positive TS (median age = 33·9 years, range = 17·7-44·7) and 21-OH antibody-negative TS (median age = 31·6 years, range = 11·2-62·2) (P = 0·8). No TS was positive for IFN-ω antibodies (mean = 42·4, range = -435-191). No overlapping autoimmune profile between TS and APS I was found. Autoimmunity against 21-OH among TS patients was more prevalent than previously identified, suggesting an increased risk of adrenal failure in TS. However, whether adrenal impairment will develop remains unknown.

Keywords: Turner syndrome; adrenal insufficiency; autoimmune polyendocrine syndrome type.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Autoantibodies / blood*
  • Child
  • Female
  • Humans
  • Middle Aged
  • Polyendocrinopathies, Autoimmune / immunology*
  • Steroid 21-Hydroxylase / immunology*
  • Turner Syndrome / immunology*
  • Young Adult


  • Autoantibodies
  • Steroid 21-Hydroxylase