Endocrine Abstracts

Background: In women with autoimmune primary adrenal failure (AD) there is a high prevalence of autoimmune primary ovarian failure (POI). Whether the oophoritis is caused by an unknown ovary-specific autoantibodyor cross-autoimmunity with steroid hormone producing cells in the adrenal cortex is unknown. Autoimmune POI can also affect women without AD. Autoantibodies against steroidogenic enzymes are useful diagnostic markers in AD but are of uncertain value in idiopathic POI.

Aim: To compare the prevalence of steroidogenic autoantibodies in AD women with and without autoimmune POI to women with idiopathic POI.

Materials and methods: In this retrospective cross-sectional trial we identified 484 women with AD, using data from the world’s largest Registry of Organ Specific Autoimmune Diseases (ROAS).POI was diagnosed based the registry’s clinical and biochemical information and further validated using data from The Norwegian Prescription Database. The autoimmune status was evaluated with immunological methods of autoantibody detection against 21-hydroxylase (21 OH), side-chain cleavage enzyme (SCC), NALP5 and 17-hydroxylase (17 OH). Twenty-two women with idiopathic POI were also included.

Results: The prevalence of POI in the AD cohort was 9.1% (44/484). The AD women with POI where youngerwhen diagnosed with AD (30.9 ± 14.0 vs 36.7 ± 15.1 years) and had a subsequently longer AD disease duration (27.7 ± 15.2 vs 21.0 ± 15.5 years).More than half of AD women with POI had ≥3 positive autoantibodies. Autoantibodies against 21 OH were detected in all AD women with POI (100%) and 439 of 408 (93%) AD women without POI. SCC were positive in 35 of 44 with POI (80%) and 61 of 396 (15%) without POI. In women with idiopathic POI, only two of 22 women had positive SCC and none had detectable autoantibodies towards 21OH/NALP5/17OH.

Conclusion: POI is common in AD, and AD women have a higher frequency of positive steroidogenic autoantibodies. In these women, SCC seems to be the most specific marker for autoimmune POI. However, the prevalence of steroidogenic autoantibodies in idiopathic POI is low, suggesting either non-autoimmune cause or highlighting the need for an ovary-specific biomarker for autoimmune oophoritis.