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Congenital Adrenal Hyperplasia
| Acronym: | CAH |
| Gene: | CYP11B1 |
| Mutation: | c.1151G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands in different animals including cats. Adrenal glands produce important hormones cortisol and aldosterone and CAH usually results from a deficiency of one of the enzymes required for their synthesis. So far two types of CAH have been reported in cats and both of them are characterized by increased circulating concentrations of androgens and mineralocorticoids causing altered growth, fertility issues, and abnormal sexual development. This endocrine disorder is caused by a single base change within the CYP11B1 gene that encodes 11-β-hydroxylase. 11-β-hydroxylase deficiency results in insufficient cortisol production and secondary inadequate negative feedback to the hypothalamus and cranial pituitary gland leading to the overproduction of hormones that regulate the synthesis of other hormones.
This type of adrenal gland malfunction found in cats is inherited as an autosomal recessive trait meaning both mutated CYP11B1 genes are required for the disease to develop. Cats with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can help breeders in selecting future mating pairs and help prevent passing the mutation to the offspring.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Owens, S. L., Downey, M. E., Pressler, B. M., Birkenheuer, A. J., Chandler, D. W., Scott-Moncrieff, J. C. (2012). Congenital adrenal hyperplasia associated with mutation in an 11β-hydroxylase-like gene in a cat. Journal of veterinary internal medicine, 26(5), 1221–1226. https://doi.org/10.1111/j.1939-1676.2012.00971.x
Knighton E. L. (2004). Congenital adrenal hyperplasia secondary to 11beta-hydroxylase deficiency in a domestic cat. Journal of the American Veterinary Medical Association, 225(2), 238–231. https://doi.org/10.2460/javma.2004.225.238