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| {{Congenital adrenal hyperplasia}} | | {{Congenital adrenal hyperplasia}} |
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| {{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
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| ==Overview==
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| ==Classification==
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| Congenital adrenal hyperplasia may be classified in to seven different types, based on specified genetic mutation as following:<ref name="pmid28576284">{{cite journal |vauthors=El-Maouche D, Arlt W, Merke DP |title=Congenital adrenal hyperplasia |journal=Lancet |volume= |issue= |pages= |year=2017 |pmid=28576284 |doi=10.1016/S0140-6736(17)31431-9 |url=}}</ref>
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| * 21-hydroxylase deficiency
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| ** Genetic defects: CYP21A2
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| ** The most common cause of congenital adrenal hyperplasia worldwide, accounting for more than 95 percent of cases, is 21-hydroxylase deficiency** 21-OHD is classified into 3 subtypes according to clinical severity:
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| *** classic salt wasting (SW)
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| *** classic simple virilizing (SV)
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| *** Nonclassic CAH (NCCAH; mild or late onset)<ref name="pmid28476231">{{cite journal |vauthors=Hannah-Shmouni F, Chen W, Merke DP |title=Genetics of Congenital Adrenal Hyperplasia |journal=Endocrinol. Metab. Clin. North Am. |volume=46 |issue=2 |pages=435–458 |year=2017 |pmid=28476231 |doi=10.1016/j.ecl.2017.01.008 |url=}}</ref>
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| * 11β-hydroxylase deficiency
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| ** Genetic defect: CYP11B1
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| * 17α-hydroxylase/ 17,20-lyase deficiency
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| ** Genetic defect: CYP17A1
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| * 3β-hydroxy-steroid dehydrogenase type 2 deficiency
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| ** Genetic defect: HSD3B2
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| * P450 oxidoreductase deficiency
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| ** Genetic defect: POR
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| * Lipoid adrenal hyperplasia
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| ** Genetic defect: StAR
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| * Cholesterol side chain cleavage enzyme deficiency
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| ** Genetic defect: CYP11A1
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| ==References==
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| {{Reflist|2}}
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| [[Category:Disease]]
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| [[Category:Pediatrics]]
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| [[Category:Endocrinology]]
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| [[Category:Genetic disorders]]
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