Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature

Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia

“…We identified 18 case reports and 1 case series (N = 22 patients) of CAH and adrenal tumours where genetic testing was either not performed (N = 17) or negative (N = 5). Most subjects were diagnosed with CYP21A2 deficiency (N = 17) [64,[73][74][75][76][77][78][79][80][81][82][83][84][85][86][87][88][89], while another had CYP17A1 deficiency [89]; four other cases did not have a specific enzymatic deficit available (according to a limited genetic testing panel), but considering that CYP21A2 has the highest prevalence, they would be very likely to suffer from it [85][86][87][88].…”

“…Most patients were diagnosed with CAH before the actual discovery of an adrenal tumour (N = 13/22); some of them displayed an early CAH confirmation. For example, three were diagnosed as neonates [78,86,87], and seven of them were diagnosed during infancy or childhood [64,[73][74][75][76]82,83,88]; two subjects had an uncertain time of CAH diagnosis before presentation for adrenal tumours [81,85]). On the opposite side, 9/22 individuals were identified with CAH after the discovery of the adrenal masses [51,77,79,80,84,89].…”

“…On the opposite side, 9/22 individuals were identified with CAH after the discovery of the adrenal masses [51,77,79,80,84,89]. Late CAH confirmation was established in some individuals (N = 5) [77,79,80,84,89], while others, despite prior diagnosis, were poorly compliant with specific CAH therapy (N = 5) [73,74,[86][87][88].…”

“…In terms of CAH form, most patients presented with SV-CAH (N = 7) [64,74,76,79-82], followed by SW-CAH (N = 6) [75,78,83,[86][87][88] and NC-CAH (N = 5) [51,84]; there was also one carrier [51]. The most frequent tumours were myelolipomas (N = 14) [64,[73][74][75][76][79][80][81][84][85][86][87][88][89], respectively, incidentalomas (N = 8) [51,79,80,82,84], adrenocortical adenoma (N = 2) [77,82], and adrenocortical carcinoma (N = 2) [78,81] and lipoma (N = 1) [83].…”

“…The majority of the tumours were bilateral (N = 18/22 subjects, 13 of them having a larger mass on the left than right side) [51,64,73,75,76,78,84,[86][87][88][89]; 4/22 had unilateral adrenal masses (all of them being located at the left adrenal gland) [74,80,82,85]. Most tumours were >10 cm (N = 12) [73][74][75][76]78,81,[83][84][85][86][87][88], and 5/12 were larger than 20 cm [73][74][75]85,87], the largest being >30 cm [75,85]; five subjects had tumours of 5-10 cm [77,79,80,82,89], and four persons had tumours <5 cm [51,64]. Of note, all patients with SW-CAH had adrenal masses >10 cm [75,78,83,[86][87][88]…”