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.

Keywords: CYP21A2; adrenal incidentaloma; adrenal tumour; adrenocortical carcinoma; congenital adrenal hyperplasia; enzyme; gene; myelolipomas; surgery.

Figure 1

Strategy of research—associated flowchart (n = number of articles). Approach of CAH—adrenal tumours connections. Abbreviations: CAH = congenital adrenal hyperplasia; n = number of studies; AT = adrenal tumours; WGC = without a genetic confirmation; CYP21A2, CYP17A1, CYP11B1, HSD3B2 = enzymes/genes deficiencies; n = number of studies.

Figure 2

Case-sample analysis (n = 43 original papers, N = 59 patients; overall publication timeline between 2014 and 2023). Abbreviations: CAH = congenital adrenal hyperplasia; N = number of patients; WGC = without a genetic confirmation.

Figure 3

Bilateral adrenal hyperplasia (red arrows) according to computed tomography exam on a prior unreported case of a 26-year-old female diagnosed with HSD3B2 deficiency and SV-CAH form (no tumour was suspected in this case since the imaging aspect is rather usual in this situation).