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Is Congenital Adrenal Hyperplasia Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-recessive
- Key genes
- CYP21A2
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CAH is caused by CYP21A2 mutations reducing cortisol synthesis. The classic form is a newborn screening condition.
How Genetic Is Congenital Adrenal Hyperplasia?
Congenital Adrenal Hyperplasia has a strong genetic basis. Research estimates heritability at approximately 100%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.
Key genes associated with Congenital Adrenal Hyperplasia: CYP21A2. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Congenital Adrenal Hyperplasia?
Yes — family history is one of the strongest predictors of Congenital Adrenal Hyperplasia. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.
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