Congenital adrenal hyperplasia epidemiology and demographics: Difference between revisions
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The incidence of congenital adrenal hyperplasia ranges from 1:10,000 to 1:20,000 births. | The incidence of congenital adrenal hyperplasia ranges from 1:10,000 to 1:20,000 births. | ||
CAH is more prevalent in some ethnic groups, particularly in remote geographic regions such as Alaskan Yupiks.<ref name="pmid20823466">{{cite journal |vauthors=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC |title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue=9 |pages=4133–60 |year=2010 |pmid=20823466 |pmc=2936060 |doi=10.1210/jc.2009-2631 |url=}}</ref> | CAH is more prevalent in some ethnic groups, particularly in remote geographic regions such as Alaskan Yupiks.<ref name="pmid20823466">{{cite journal |vauthors=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC |title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue=9 |pages=4133–60 |year=2010 |pmid=20823466 |pmc=2936060 |doi=10.1210/jc.2009-2631 |url=}}</ref><ref name="pmid15554889">{{cite journal |vauthors=van der Kamp HJ, Wit JM |title=Neonatal screening for congenital adrenal hyperplasia |journal=Eur. J. Endocrinol. |volume=151 Suppl 3 |issue= |pages=U71–5 |year=2004 |pmid=15554889 |doi= |url=}}</ref> | ||
Revision as of 01:03, 12 July 2017
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Congenital adrenal hyperplasia main page |
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 incidence of congenital adrenal hyperplasia ranges from 1:10,000 to 1:20,000 births.
CAH is more prevalent in some ethnic groups, particularly in remote geographic regions such as Alaskan Yupiks.[1][2]
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
- ↑ Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010). "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J. Clin. Endocrinol. Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.
- ↑ van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.