In severe forms, the neonate can present with SW crisis but the diagnosis can be delayed in mild forms until adolescence. Hormonal criteria for the diagnosis of 3βHSD2D have been developed and it was proposed that Δ5-17-hydroxypregnenolone above 100 nmol/L, either basal or after ACTH stimulation, is the best single biological criterion of 3βHSD2D. However, molecular genetic testing is recommended to confirm the diagnosis. Glucocorticoid and mineralocorticoid replacement are the main treatments. Sex hormone replacement and surgical corrective procedures may be indicated in some patients. On the basis of case reports, 3βHSD2D may be associated with infertility, obesity, osteoporosis, TARTs, and reduced final height. However, very little is known about mortality, cardiovascular health, mental health, and adrenal tumor risk due to the rareness of 3βHSD2D but can be presumed to be elevated, and similar to 21OHD. Although in 3βHSD2D it seems to be more difficult to suppress the androgens, subsequently leading to slightly higher glucocorticoid doses.
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