Congenital adrenal hyperplasia epidemiology and demographics: Difference between revisions

Jump to navigation Jump to search
No edit summary
Line 6: Line 6:
==Overview==
==Overview==


== Epidemiology and Demographics ==  
== Epidemiology and Demographics ==
The classic type affects approximately 1 in 16,000 live births.2 NCCAH is one of the most common autosomal recessive disorders in humans and affects approximately 1 in 1000 individuals.3 The second most common form of CAH, 11b-hydroxylase deficiency (11-OHD), occurs in 1 in 100,000 live births in the general population and accounts for approximately 5% of cases.4 Other less common forms of CAH include 3b-hydroxysteroid dehydrogenase type 2 deficiency, 17a-hydroxylase deficiency that is more commonly seen in Brazil and Mennonite descendants from Dutch Friesland; congenital lipoid adrenal hyperplasia that is more commonly seen in the Japanese and Korean populations; side-chain cleavage (SCC) enzyme deficiency that is most commonly found in Turkey; and cytochrome P450 oxidoreductase deficiency, the only variant that can manifest with skeletal malformation


* The disorder in the most classical form is thought to affect approximately 1 in 15-30,000 patients.  Milder forms of the disease are estimated to occur in as many as 1 in 100-1000 patients.  90% of CAH is due to a complete or partial deficiency in 21-hyroxylase.  5-8% of CAH is due to deficiency in 11-hydroxylase.  In rare instances, 17-alpha-hydroxylase and 3-beta-hydroxysteroid dehydrogenase deficiency can lead to CAH.  Certain ethnic groups are thought to be at increased risk such as Yupik Eskimos and Jews of Moroccan ancestry.
CAH ART


==References==
==References==

Revision as of 17:24, 7 July 2017

Congenital adrenal hyperplasia main page

Overview

Classification

21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia

Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Epidemiology and Demographics

The classic type affects approximately 1 in 16,000 live births.2 NCCAH is one of the most common autosomal recessive disorders in humans and affects approximately 1 in 1000 individuals.3 The second most common form of CAH, 11b-hydroxylase deficiency (11-OHD), occurs in 1 in 100,000 live births in the general population and accounts for approximately 5% of cases.4 Other less common forms of CAH include 3b-hydroxysteroid dehydrogenase type 2 deficiency, 17a-hydroxylase deficiency that is more commonly seen in Brazil and Mennonite descendants from Dutch Friesland; congenital lipoid adrenal hyperplasia that is more commonly seen in the Japanese and Korean populations; side-chain cleavage (SCC) enzyme deficiency that is most commonly found in Turkey; and cytochrome P450 oxidoreductase deficiency, the only variant that can manifest with skeletal malformation

CAH ART

References


Template:WikiDoc Sources