Its utility in 3βHSD2D is currently unclear. 3βHSD2D is a very rare form of CAH and the phenotype varies according to the severity of the HSD3B2 mutations. 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.
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