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
Famous quotes containing the words congenital, due and/or deficiency:
“France is not poetic; she even feels, in fact, a congenital horror of poetry. Among the writers who use verse, those whom she will always prefer are the most prosaic.”
—Charles Baudelaire (1821–1867)
“We praise times past, while we times present use;
Yet due the worship which to each we give.”
—Ovid (Publius Ovidius Naso)
“Shakespeare’s fault is not the greatest into which a poet may fall. It merely indicates a deficiency of taste.”
—Denis Diderot (1713–1784)