Congenital adrenal hyperplasia due to dehydrogenase deficiency
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High Quality Content by WIKIPEDIA articles! 3B-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia is an uncommon form of CAH resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3B-hydroxysteroid dehydrogenase type II. As a result, higher levels of 17OH-pregnenolone appear in the blood with ACTH challenge, which stimulates adrenal corticosteroid synthesis. There is a wide spectrum of clinical presentations of 3BHSD 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 3BHSD 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.
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GarantieWeitere Informationen
- Allgemeine Informationen
- GTIN 09786130852641
- Editor Frederic P. Miller, Agnes F. Vandome, John McBrewster
- EAN 9786130852641
- Format Fachbuch
- Titel Congenital adrenal hyperplasia due to dehydrogenase deficiency
- Herausgeber Alphascript Publishing
- Anzahl Seiten 120
- Genre Biologie
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