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Congenital adrenal hyperplasia (CAH) is a genetic hormonal disorder and is characterised by a mutation in the CYP11B1 gene.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Congenital adrenal hyperplasia (CAH) is a genetic hormonal disorder and is characterised by a mutation in the CYP11B1 gene. The CYP11B1 gene encodes for 11β-hydroxylase. A 11β-hydroxylase deficiency results in abnormal hormone levels.
Clinical features
Although CAH is a genetic disorder, clinical signs can become apparent at a later stage in life and can vary from hypertension, polyuria and excessive thirst to secondary sex characteristics and behavioral abnormalities.
Additional information
CAH is only reported twice in cats but it should be a diagnosis for cats with specific symptoms as described in the clinical features.
References
Pubmed ID: 22827537
Omia ID: 1661
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