Congenital adrenal hyperplasia / CAH (CYP11B1-related) - Cat

CAH and 11β-hydroxylase deficiency

This genetic test analyses the CYP11B1 variant c.1151G>A, which causes congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency in cats. CYP11B1 encodes an enzyme needed for normal adrenal hormone production.

Affected cats can develop hormonal disturbances including abnormal sex characteristics, hypertension, increased drinking and urination, coat and skin changes, and altered cortisol, aldosterone and androgen levels.

Practical value of this test

• Determines whether the cat is clear, a carrier or genetically affected for the tested CYP11B1 variant.
• Supports breeding selection because CAH is autosomal recessive.
• Provides clear genetic context in cats with endocrine or sex-development features.

CAH follows an autosomal recessive mode of inheritance. Cats with two copies of the variant are genetically affected; carriers can pass the variant to offspring.