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Summary: 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. [ABSTRACT FROM AUTHOR]

Primary adrenal insufficiency ( PAI), or Addison's disease, is a rare, potentially deadly, but treatable disease. Most cases of PAI are caused by autoimmune destruction of the adrenal cortex. Consequently, patients with PAI are at higher risk of developing other autoimmune diseases. The diagnosis of PAI is often delayed by many months, and most patients present with symptoms of acute adrenal insufficiency. Because PAI is rare, even medical specialists in this therapeutic area rarely manage more than a few patients. Currently, the procedures for diagnosis, treatment and follow-up of this rare disease vary greatly within Europe. The common autoimmune form of PAI is characterized by the presence of 21-hydroxylase autoantibodies; other causes should be sought if no autoantibodies are detected. Acute adrenal crisis is a life-threatening condition that requires immediate treatment. Standard replacement therapy consists of multiple daily doses of hydrocortisone or cortisone acetate combined with fludrocortisone. Annual follow-up by an endocrinologist is recommended with the focus on optimization of replacement therapy and detection of new autoimmune diseases. Patient education to enable self-adjustment of dosages of replacement therapy and crisis prevention is particularly important in this disease. The authors of this document have collaborated within an EU project (Euadrenal) to study the pathogenesis, describe the natural course and improve the treatment for Addison's disease. Based on a synthesis of this research, the available literature, and the views and experiences of the consortium's investigators and key experts, we now attempt to provide a European Expert Consensus Statement for diagnosis, treatment and follow-up. [ABSTRACT FROM AUTHOR]