Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia

Abstract

Our aim is to update the topic of adrenal tumours (ATs) in congenital adrenal hyperplasia (CAH) based on a multidisciplinary, clinical perspective via an endocrine approach. This narrative review is based on a PubMed search of full-length, English articles between January 2014 and July 2023. We included 52 original papers: 9 studies, 8 case series, and 35 single case reports. Firstly, we introduce a case-based analysis of 59 CAH-ATs cases with four types of enzymatic defects (CYP21A2, CYP17A1, CYP17B1, and HSD3B2). Secondarily, we analysed prevalence studies; their sample size varied from 53 to 26,000 individuals. AT prevalence among CAH was of 13.3–20%. CAH prevalence among individuals with previous imaging diagnosis of AT was of 0.3–3.6%. Overall, this 10-year, sample-based analysis represents one of the most complex studies in the area of CAH-ATs so far. These masses should be taken into consideration. They may reach impressive sizes of up to 30–40 cm, with compressive effects. Adrenalectomy was chosen based on an individual multidisciplinary decision. Many tumours are detected in subjects with a poor disease control, or they represent the first step toward CAH identification. We noted a left lateralization with a less clear pathogenic explanation. The most frequent tumour remains myelolipoma. The risk of adrenocortical carcinoma should not be overlooked. Noting the increasing prevalence of adrenal incidentalomas, CAH testing might be indicated to identify non-classical forms of CAH.

Adrenal Cysts: To Operate or Not to Operate?

“…However, there have been reported cases of pheochromocytomas [56,58] and ACCs [59]. More than half (60%) of patients with CAH and concomitant adrenal tumour had large tumours (more than 5 cm in diameter), and the majority were surgically treated [55,57]. Though larger tumours may deteriorate into pseudocysts, to our knowledge, there are no documented occurrences of adrenal cysts in patients with CAH.…”

“…Nevertheless, it is unclear if ACTH also encourages tumour growth. A routine screening for adrenal tumours in patients with CAH is not recommended by the current guidelines [54], and a few studies investigated adrenal tumours in patients with CAH [53,55,56]. The overall prevalence of adrenal tumours in patients with CAH is estimated to be around 30% [52,53,55].…”

“…A routine screening for adrenal tumours in patients with CAH is not recommended by the current guidelines [54], and a few studies investigated adrenal tumours in patients with CAH [53,55,56]. The overall prevalence of adrenal tumours in patients with CAH is estimated to be around 30% [52,53,55]. Additionally, the prevalence of CAH is higher in patients diagnosed with an adrenal tumour of any kind [57].…”

“…Additionally, the prevalence of CAH is higher in patients diagnosed with an adrenal tumour of any kind [57]. The most common adrenal tumours verified in CAH are myelolipomas [52,53,[55][56][57], followed by adrenocortical adenomas [53,[55][56][57]. However, there have been reported cases of pheochromocytomas [56,58] and ACCs [59].…”