Recent Blog Posts

View Post: eScholarship: Tenascin-X, Collagen, Elastin and the Ehlers-Danlos ...
22 Aug 2006 by James Bristow  
CYP21B encodes steroid 21-hydroxylase an essential enzyme in cortisol and mineralocorticoid biosynthesis, deficiency of which leads to the recessive disorder congenital adrenal hyperplasia[17]. While trying to clone to a mutant CYP21B cDNA from an adrenal library prepared from the adrenal gland of an affected fetus, we instead cloned a low-level antisense transcript that would be obscured by the 100-fold greater expression of CYP21B in the normal adrenal. ...
View Blog: eScholarship Repository - http://repositories.cdlib.org/

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View Post: Differential Diagnosis of PCOS
Polycystic Ovarian Syndrome ...
14 May 2008 by editor   ...
View Blog: http://pcos.insulitelabs.com/blog/index.php/

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View Post: On Touching and Saving Lives!: Newborn Screening Program In The ...
22 Oct 2009 by noreply@blogger.com (Marie)  
CAH (Congenital adrenal hyperplasia) - refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands ( steroidogenesis). ... Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency. GAL (Galactosemia) - is a rare genetic metabolic disorder which affects an individual's ability to properly metabolize the sugar galactose. ...
View Blog: On Touching and Saving Lives! - http://vmariern.blogspot.com/

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View Post: non classical congenital adrenal hyperplasia - Health Resources ...
1 Aug 2009 by Tiny  
non classical congenital adrenal hyperplasia. Congenital Adrenal Hyperplasia - NADF . Congenital Adrenal Hyperplasia (CAH), a disease affecting the adrenal glands. . Non-classical CAH is among the most common genetic disorders, with Ashkenazi . ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency . Non-classical form: This form of the disease is mild and usually manifest as . Bahlburg HF: Gender and sexuality in classic congenital adrenal hyperplasia. . -> ...
View Blog: Health Resources - http://www.health-res.com/

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View Post: ISPUB - Neonatal Meningitis Together With 11-Beta Hydroxylase ...
27 Sep 2009
The most frequently deficient enzyme is 21-hydroxylase and the second most common is 11-beta hydroxylase. A deficiency of 11-beta hydroxylase is seen in 5 -8% of congenital adrenal hyperplasia cases. An increase in androgyny develops ... and corticosteroids in the zona fasciculata layer of the adrenal gland results in an accumulation of cortisole primary matter (1). Of all congenital adrenal hyperplasia cases, 5-8 % show a deficiency of 11-beta hydroxylase enzyme (1). ...
View Blog: Internet Scientific Publications - http://www.ispub.com/

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View Post: Jeffrey Dach MD Bio-Identical Hormone Blog: A Commonly Missed ...
7 Mar 2008 by Jeffrey Dach MD  
The underlying genetic disorder causes an enzyme deficiency in the adrenal gland which reduces the ability of the adrenal to make cortisol. Instead of making cortisol, the adrenal steroid pathways are shunted towards testosterone causing elevated ... This is a key enzyme in the adrenal gland involved in the conversion of cholesterol into cortisol. In the Classical form of CAH, the 21 hydroxylase enzyme (21-OH) is severely deficient with resulting low cortisol levels, ...
View Blog: Jeffrey Dach MD Bio-Identical Hormone Blog - http://jeffreydach.com/

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View Post: HowStuffWorks "Congenital Adrenal Hyperplasia - Medical Dictionary"
1 Dec 2009
Congenital adrenal hyperplasia, a group of adrenal gland disorders, occur when a missing enzyme affects hormone production. Learn about congenital adrenal hpyerplasia causes, symptoms, tests, treatment and prevention. ... Alternative Names. Adrenogenital syndrome; 21-hydroxylase deficiency ...
View Blog: HowStuffWorks.com: Medical Encyclopedia - RSS - http://healthguide.howstuffworks.com/medical-ency...

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View Post: A drenal insufficiency — the clinical manifestation of deficient
11 Jun 2009
pattern involving incomplete penetrance (autoim- mune polyglandular syndrome 2). Congenital adrenal hyperplasia due to 21- hydroxylase deficiency7 is one of the more com- mon causes of hereditary adrenal disorders, with ... sign of the disorder; the diagnosis may be con- firmed by measurement of very-long-chain fatty acids. This disorder accounts for up to 10% of all cases of adrenal insufficiency. Like hereditary disorders of the adrenal gland, ...
View Blog: The Aspergillus Website - articles - http://www.aspergillus.org.uk/secure/articles/index.php

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View Post: It's Not 'Mental': What are some genetic causes of psychosis?
8 Dec 2007 by Jeanie  
For those who may not know what we are talking about, congenital adrenal hyperplasia, also known as Adrenogenital syndrome and 21-hydroxylase deficiency, refers to a group of inherited adrenal gland disorders. People with this condition ...
View Blog: It's Not 'Mental' - http://itsnotmental.blogspot.com/

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View Post: Medical Whodunnit: 7 Year Old Male With Rapid Growth
Endodoc
22 Mar 2009 by endodoc   ...
View Blog: http://endodoc.org/

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