21-hydroxylase deficiency epidemiology and demographics

	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]

Overview

Epidemiology and Demographics

Incidence

For classic salt wasting disease is 1/20,000
For classic simple or non-salt wasting is 1/60,000
For late onset type is 1/1000

Prevalence

Race

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean race.
The Ashkenazi Jews to Mediterranean race ratio is approximately 1 to 3.^[1]

The classic type affects approximately 1 in 16,000 live births. 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.^[2]

Incidence for each region:

Alaska, Yupik Eskimos : 1/280 France, La Reunion: 1/2,100 Sweden: 1/9,800 United States, Wisconsin: 1/11,000 France, Lille: 1/13,000 Japan: 1/18,000 United States, Texas: 1/16,000 Scotland: 1/17,000 Italy: 1/18,000 New Zealand: 1/23,000

References

↑ Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC; et al. (1988). "Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Pediatrics. 81 (6): 866–74. PMID 3259306.
↑ 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.

[pmid3259306-1] Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC; et al. (1988). "Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Pediatrics. 81 (6): 866–74. PMID 3259306.

[pmid9556656-2] 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.

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