21-hydroxylase deficiency epidemiology and demographics

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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]


References

  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.
  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.