Endocrine Abstracts

JOINT2178

Background: Several studies have shown an increased prevalence of adrenal adenomas in adult patients with congenital adrenal hyperplasia (CAH) (1). However, data on the topic are still scarce, especially in East European countries.

Methods: The data of all adult patients with proven congenital adrenal hyperplasia in a single Expert Center for Rare Endocrine Diseases for the last 15 years have been explored. The prevalence and characteristics of adrenal formations (AF) have been described.

Results: Seventy-two CAH patients (60 women and 12 men) were included in the study. Four women and three men (16.7% of all) presented with AF. Patients with AF were significantly older than the other CAH patients (median 39.0 years [36.0–56.0] vs. median 27.0 years [18.0–57.0], P<0.001]). In three patients, visualized adrenal adenomas led to CAH diagnosis, while in the other four patients, CAH was diagnosed in childhood, with 3 of them showing poor compliance to corticosteroid therapy. In 6 of the patients, the AF characteristics were benign, while in one patient, adrenal carcinoma was found. The median size of AF was 41 mm (16–67), the largest formation being considered adrenal carcinoma; 2 of the AF were left-sided, 1 – was right-sided, and 4 – were bilateral.

Conclusions: The development of AF in adult CAH patients is associated with late diagnosis or poor compliance with corticosteroid therapy. Most AF in undertreated CAH patients are bilateral. More efforts should be made to diagnose simple-virilizing and late CAH forms early, even in countries with appropriate CAH neonatal screening. The timely transition from pediatric to adult endocrine tertiary centers is crucial for preventing complications in CAH patients.

References: 1. Nermoen I, Falhammar H. Prevalence and Characteristics of Adrenal Tumors and Myelolipomas in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. Endocr Pract. 2020;26(11):1351–1365.