Congenital Adrenal Hyperplasia Due To 3 Beta-hydroxysteroid Dehydrogenase Deficiency
3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3β-HSD CAH) is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid dehydrogenase (3β-HSD) type II (HSD3B2). As a result, higher levels of 17OH-pregnenolone appear in the blood with adrenocorticotropic hormone (ACTH) challenge, which stimulates adrenal corticosteroid synthesis.
There is a wide spectrum of clinical presentations of 3β-HSD CAH, from mild to severe forms. The uncommon severe form results from a complete loss of enzymatic activity and manifests itself in infancy as salt wasting due to the loss of mineralocorticoids. Milder forms resulting from incomplete loss of 3β-HSD type II function do not present with adrenal crisis, but can still produce virilization of genetically female infants and undervirilization of genetically male infants. As a result, this form of primary hypoadrenalism is the only form of CAH that can cause ambiguous genitalia in both genetic sexes.
Read more about Congenital Adrenal Hyperplasia Due To 3 Beta-hydroxysteroid Dehydrogenase Deficiency: Pathophysiology, Mineralocorticoid Aspects of 3β-HSD CAH, Sex Steroid Aspects of 3β-HSD CAH, Diagnosis, Management of 3β-HSD II Deficient CAH After Infancy
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