Chronic elevation of ACTH will lead to hyperplasia of the adrenal cortex and sometimes subsequent tumor formation [123,124,125]. Adrenal tumors have so far not been reported in 3βHSD2D but are known to affect 11–82% of patients with other CAH variants [124, 126, 127]. Adrenal incidentalomas, i.e., adrenal tumors found serendipitously by imaging for other reasons than suspected adrenal tumor or disease [128], have sometimes been the initial presentation of CAH, including classic CAH, both in case reports and adrenal incidentaloma cohorts [125, 129,130,131,132,133,134]. Very little is known about the mortality in individuals with 3βHSD2D. The introduction of glucocorticoid replacement and increased awareness have increased the survival of classic 21OHD [5], and this is most probably also the case in 3βHSD2D. In population studies, patients with CAH had generally an increased mortality rate (hazard ratio 3–5) and died 6.5–18 years earlier, compared to controls [122, 135].
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