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

Abstract

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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].…”

“…Out of the 22 patients, 15 were phenotypically male [51,73,75-83,85,87,88] and 4 were phenotypically female [51,74,84]; one phenotypically male had 46,XX karyotype [82]; one phenotypically female had 46,XY karyotype [89]; and one subject born female was identifying as male [86]. The mean age at adrenal tumour identification was 44.5 years (a median of 43).…”

“…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].…”