Priority: normal · Status: published
Date: 2026-10-22 (Journal of Clinical Investigation, online)
Source: Journal of Clinical Investigation (JCI) — Karolinska Institutet and Nordic centres — https://www.jci.org/articles/view/206184
What happened?
A study led by Karolinska Institutet in Sweden and published in JCI on 22 October 2026 shows that people diagnosed with autoimmune Addison’s disease who lack the typical antibody (21-hydroxylase antibody) may need their diagnosis reviewed.
What is this about? (short)
In adults, the most common cause of primary adrenal insufficiency is autoimmune Addison’s disease, and its hallmark is 21-hydroxylase antibodies. Some patients test negative for this antibody, which can leave the true cause uncertain.
The researchers used a “polygenic risk score” (PRS14) that measures genetic susceptibility to autoimmune Addison’s to prioritise which antibody-negative patients should be re-evaluated.
Study summary
The score was calculated in 124 antibody-negative patients. Those with low (35) or high (10) genetic susceptibility underwent clinical re-evaluation and whole-genome sequencing.
Of the 34 evaluable low-score patients, 14 (41%) were re-diagnosed with non-autoimmune adrenal insufficiency: 6 (17%) had confirmed monogenic (single-gene) primary adrenal insufficiency and 8 (23%) had tuberculosis or non-primary causes. In 4 of the monogenic cases the disease began in adulthood. Another 7 patients (20%) carried variants suspected of causing monogenic disease. No alternative causes were found in the high-score group.
Who is it for?
The study concerns people with an Addison’s diagnosis who are negative for 21-hydroxylase antibodies (seronegative). The authors suggest considering genetic evaluation in these patients regardless of age at diagnosis.
Access / country context
This is a research finding; the polygenic risk score is not yet a routine clinical test. Access to antibody testing and genetic work-up varies by country and centre. The study is based on Nordic patient registries.
What it means for patients in Türkiye
The cause of your diagnosis (autoimmune, genetic, tuberculosis, etc.) can matter for follow-up and family screening. If you do not know your antibody result or it was negative, you can ask your endocrinologist whether further evaluation is needed. This news is not a reason to change any medicine or dose on your own.
Warning: This is a news summary, not dose or treatment advice. Ask your endocrinologist.
Prepared by: Asistan · 2 Nov 2026. Source verified: JCI article abstract.
Medical disclaimer: Information on this site is prepared by a patient community for general awareness; for diagnosis, treatment or dose changes always consult your own doctor (endocrinologist). In an emergency call your local emergency number.