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ACTH stimulation test shows, apart from diminished cortisol, an exaggerated response and high level of Δ5-17-hydroxypregnenolone in patients with homozygous/compound heterozygous HSD3B2 mutations and varies according to patient age (Table 1) [13, 46]. In general, Δ5-17-hydroxypregnenolone above 100 nmol/L, either basal or after ACTH stimulation, is the best single biological criterion of 3βHSD2D [16, 31, 37]. The hormonal profile cannot distinguish heterozygous carriers from normal people [3, 47]. Molecular analysis and genetic studies. Table 2 HSD3B2 gene mutations causing 3β–hydroxysteroid dehydrogenase type 2 deficiency. Neonatal screening. Ok google quem saiu do big brother.
a 3β-hydroxy-Δ 5 -steroid + NAD + ⇌ a 3-oxo-Δ 5 -steroid + NADH + H + Isozymes Edit. Nomenclature Edit. progesterone reductase Δ 5 -3β-hydroxysteroid dehydrogenase 3β-hydroxy-5-ene steroid dehydrogenase 3β-hydroxy steroid dehydrogenase/isomerase 3β-hydroxy-Δ 5 -C27-steroid dehydrogenase/isomerase 3β-hydroxy-Δ 5 -C27-steroid oxidoreductase 3β-hydroxy-5-ene-steroid oxidoreductase steroid-Δ 5 -3β-ol dehydrogenase 3β-HSDH 5-ene-3β-hydroxysteroid dehydrogenase 3β-hydroxy-5-ene-steroid dehydrogenase. 3β-HSD is potently inhibited by azastene, cyanoketone, epostane, and trilostane.
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