Bookcover of Congenital adrenal hyperplasia due to dehydrogenase deficiency
Booktitle:

Congenital adrenal hyperplasia due to dehydrogenase deficiency

Alphascript Publishing (2010-08-02 )

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ISBN-13:

978-613-0-85264-1

ISBN-10:
6130852649
EAN:
9786130852641
Book language:
English
Blurb/Shorttext:
Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. 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.
Publishing house:
Alphascript Publishing
Website:
https://www.alphascript-publishing.com/
Edited by:
Frederic P. Miller, Agnes F. Vandome, John McBrewster
Number of pages:
120
Published on:
2010-08-02
Stock:
Available
Category:
Genetics
Price:
39.00 €
Keywords:
Gene, Enzymes, Cortisol, Adrenal, Gland

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