21-hydroxylase deficiency causes

21-hydroxylase deficiency is caused by mutations in CYP21A1 and CYP21A2 genes found on chromosome 6. Approximately 70% of CYP21A2 disease is due to gene conversion and microdeletions in CYP21A1 gene; around 25% to 30% are chimeric genes due to large deletions. Less common causes are due to de novo mutations because of high variability of the CYP21A2 locus. Also, chromosome 6 uniparental disomy is rare cause of 21-hydroxylase deficiency with an unknown prevalence.

• Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of 21-hydroxylase deficiency.

Mutations in CYP21A1 and CYP21A2 gene on chromosome 6.

• Approximately 70% of disease associated with CYP21A2 is due to gene conversion and microdeletions in CYP21A1 gene.
• Approximately 25% to 30% are chimeric genes due to large deletions.

• Approximately 1% to 2% of cases are due to de novo mutations because of high variability of the CYP21A2 locus.
• Chromosome 6 uniparental disomy is a rare cause of 21-hydroxylase deficiency with an unknown prevalence.^{[1][2][1][3][4]}

• Mutation in CYPA21 gene

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