Congenital adrenal hyperplasia epidemiology and demographics

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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 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

  1. 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.
  2. van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.
  3. 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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