Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs)

Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia

“…The second section, Section 3.2, includes larger original studies (not case reports or series) where the prevalence of the adrenal tumours in CAH or of CAH in adrenal tumours was reported amid different clinical, genetic, or imaging characteristics (prevalence studies) (Figure 1). [53][54][55][56][57][58][60][61][62][63][64][65][66][67] and 7 phenotypically females [50,51,58], were identified according to our strategy (n = 18 case reports and series). Two male subjects had 46,XX karyotype [57,62].…”

“…Overall (N = 27), the median age at presentation was 47 years. The youngest patient was 21 [64], while the oldest was 88 [51]. The median age at CAH diagnosis was 45.5.…”

“…The median age at tumour diagnosis in these CAH individuals was 46. Most of these mentioned patients with pathogenic variants of CYP21A2 were diagnosed with CAH after the discovery of an adrenal tumour (N = 20) [51][52][53][54][55][56][57][58][59][60][61][62][63][64]66,67]. Only five persons were previously known with CAH [50,54,64,65] (two more cases' data were not available).…”

“…Most of these mentioned patients with pathogenic variants of CYP21A2 were diagnosed with CAH after the discovery of an adrenal tumour (N = 20) [51][52][53][54][55][56][57][58][59][60][61][62][63][64]66,67]. Only five persons were previously known with CAH [50,54,64,65] (two more cases' data were not available). In terms of CAH form, most patients presented with SV-CAH (N = 13) [50,51,[55][56][57][58][61][62][63][64]66], followed by NC-CAH (N = 11) [51][52][53][54]59,60,66,67]; only two patients had SW-CAH [64,65], while another subject had a carrier status [51] (Table 1).…”

“…Only five persons were previously known with CAH [50,54,64,65] (two more cases' data were not available). In terms of CAH form, most patients presented with SV-CAH (N = 13) [50,51,[55][56][57][58][61][62][63][64]66], followed by NC-CAH (N = 11) [51][52][53][54]59,60,66,67]; only two patients had SW-CAH [64,65], while another subject had a carrier status [51] (Table 1).…”