All the experiments were performed to define the clinical diagnosis. Informed consent was obtained from all subjects involved in the study. The contributing author can share data upon request. The authors declare no conflict of interest. Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. 1. Lorence M.C., Murry B.A., Trant J.M., Mason J.I. Human 3 beta-hydroxysteroid dehydrogenase/delta 5—4isomerase from placenta: Expression in nonsteroidogenic cells of a protein that catalyses the dehydrogenation/isomerisation of C21 and C19 steroids.
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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. Casas de apostas com bónus grátis.
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