Prevalence and Characteristics of Adrenal Tumors and Myelolipomas in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Abstract

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.

Prostatic tissue in 46XX congenital adrenal hyperplasia: Case report and literature review

“…A recent meta-analysis confirmed the high prevalence of adrenal tumors (23.6%) in patients with 21-OHD, which are most likely to be benign, particularly myelolipoma with a prevalence of 8.6% in those patients. 18 Additionally, two cases of pheochromocytoma and five cases of adrenal cortical cancer in patients with CAH were also reported in the literature. 18 One of the cases of adrenocortical carcinoma was associated with giant bilateral myelolipomas.…”

“…18 Additionally, two cases of pheochromocytoma and five cases of adrenal cortical cancer in patients with CAH were also reported in the literature. 18 One of the cases of adrenocortical carcinoma was associated with giant bilateral myelolipomas. 19 No cystic soft-tissue tumor of the adrenal gland was reported in patients with 21-OHD to the best of our knowledge.…”

Late diagnosis of classic congenital adrenal hyperplasia: long-term consequences during adulthood

“…Adrenal myelolipomas are benign non-functioning tumours of the adrenal cortex composed of adrenal, adipose and myeloid components, accounting for up to 9% of adrenal incidentalomas. The prevalence of myelolipomas in CAH is 7.4% ( 6 ). Myelolipomas are usually easy to detect on the basis of their characteristic appearance on CT, where they appear as masses with the density of fat and most also with areas of higher attenuation due to the marrow elements ( 7 ).…”

“…Numerous mechanisms have been proposed to explain the pathogenesis of adrenal myelolipomas in CAH context: the presence of embryonic bone marrow rests in adrenal tissue, adrenal embolization of bone marrow cells and metaplasia of adrenocortical cells. It is thought that these lesions are associated with chronic ACTH hyperstimulation, being described in situations of ACTH excess like in CAH (particularly late-diagnosed or poorly controlled patients), Cushing Disease and Nelson syndrome ( 6 , 7 ). It has been postulated that these myelolipomas show an overexpression of the melanocortin 2 receptor (MC2R) and androgen receptors and these factors promote the development and growth of these adrenal lesions continuously ( 8 ).…”

A Gigantic Uterine Leiomyoma and Big Bilateral Adrenal Myelolipomas as a Result of Untreated Congenital Adrenal Hyperplasia

“…Inadequate treatment can cause adrenal insufficiency, complications related to infertility and adrenal rest tumors [1]. Less commonly, chronically untreated patients can develop unusual complications including uterine leiomyomas and adrenal myelolipomas [2,6].…”