PREVALENCE AND CHARACTERISTICS OF ADRENAL TUMORS AND MYELOLIPOMAS IN CONGENITAL ADRENAL HYPERPLASIA: A SYSTEMATIC REVIEW AND META-ANALYSIS.

Context: The prevalence of adrenal tumors in congenital adrenal hyperplasia (CAH) is uncertain. Objective: To estimate the prevalence and characteristics of adrenal tumors and myelolipoma in CAH, and investigate clinical features of this population. Data Sources Methods: Systematically searches in Medline Ovid and Embase for articles published until January 2020. Study Selection: Studies with confirmed CAH, biochemically and/or genetically, were included. Data Extraction: The two authors independently extracted data from each study. Results: Six cohort studies were included in the prevalence calculation. In addition, 32 case reports on adrenal myelolipomas and CAH were included. The prevalence of adrenal tumors in CAH was 29.3%. When only studies with genetically verified CYP21A2 mutations were included the prevalence was 23.6%. The prevalence of myelolipoma in CAH was 7.4% (verified CYP21A2 mutations 8.6%). The proportion of myelolipoma in the adrenal tumors was 25.4% (genetically verified 36.6%). The median (range) age at tumor diagnosis was 36.0 (12-60) years and there were more tumors in males than in females (37.9% vs. 22.1%, P<0.05). In patients with myelolipomas 93.5% had an undiagnosed or poorly managed CAH. Conclusion: Patients with CAH had a high prevalence of adrenal tumors, particularly myelolipoma. Those with myelolipomas had a high frequency of late diagnosed or poorly controlled CAH. Adrenal imaging may be considered in patients with CAH, especially if abdominal pain is present.