Congenital adrenal hyperplasia epidemiology and demographics: Difference between revisions
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The classic type affects approximately 1 in 16,000 live births.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. | NCCAH is one of the most common autosomal recessive disorders in humans and affects approximately 1 in 1000 individuals, but in up to 1–2% among inbred populations, such as Eastern European (Ashkenazi) Jews.<ref name="pmid9556656">{{cite journal |vauthors=Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI |title=High frequency of nonclassical steroid 21-hydroxylase deficiency |journal=Am. J. Hum. Genet. |volume=37 |issue=4 |pages=650–67 |year=1985 |pmid=9556656 |pmc=1684620 |doi= |url=}}</ref> | ||
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 | 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 | ||
Revision as of 01:09, 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, but in up to 1–2% among inbred populations, such as Eastern European (Ashkenazi) Jews.[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.
- ↑ Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI (1985). "High frequency of nonclassical steroid 21-hydroxylase deficiency". Am. J. Hum. Genet. 37 (4): 650–67. PMC 1684620. PMID 9556656.