PMC6776599_01
Levels of circulating 21OH autoantibodies in the patient (P1) and steroid profiling. (A) Using radioimmunoprecipitation assay, levels of 21OH autoantibodies (blue) were measured in serum samples taken at different time points from 1996 to 2013. The cut-off value (red) was set to obtain the maximal accuracy as calculated by an interlaboratory study. (B) Using ELISA, levels of pregnenolone, DHEA, and DHEA-S were measured in serum samples from the patient (P1, blue) taken from different time points from 1996 to 2013. Normal adult values (green) are based on established reference values from the textbook "Gynecologic Endocrinology" (pregnenolone), hormone laboratory at Oslo University Hospital (DHEA) (https://ehandboken.ous-hf.no/api/File/GetFile?entityId=105475) and hormone laboratory at Haukeland University Hospital (DHEA-S) (https://analyseoversikten.no/analyse/14). The average value of AAD patients (yellow) is measured from serum samples of patients included in our biobank.
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F2
Norwegian Addison Registry identified the patient harboring the mutation, a 55-year-old female with AAD, premature ovarian insufficiency and vitamin B12 deficiency, accompanied by 21OH- and parietal cell autoantibodies (Figure 2A). Notably, she did not carry any of the major histocompatibility complex (MHC) alleles conferring high risk to develop AAD. Total pregnenolone, DHEA and DHEA-S levels were measured by enzyme-linked immunosorbent assay (ELISA) from previously collected serum samples spanning the years 1996-2013 (Figure 2B). Importantly, we detected no subsequent increase in pregnenolone, DHEA, and DHEA-S in spite of elevated ACTH levels (Figure 2B).