In clinical diagnostics, measuring the blood level of 17α-hydroxypregnenolone serves as an important marker for diagnosing two distinct forms of congenital adrenal hyperplasia (CAH): 3β-hydroxysteroid dehydrogenase deficiency, where its level is significantly elevated, and 17α-hydroxylase deficiency, where its level is reduced. It is also used in the comprehensive assessment of adrenal cortex function.
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