Congenital Adrenal Hyperplasia – CAH
Code: K597
Short description
Underlying causes of adrenal insufficiency include hereditary (congenital) adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison's disease (AAD).
General information
Underlying causes of adrenal insufficiency include hereditary (congenital) adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison’s disease (AAD).
Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands in cats. In this condition, the adrenal glands do not produce enough of certain hormones, such as cortisol and aldosterone. This hormonal imbalance can lead to a variety of symptoms and health issues in affected cats.
This mutation is inherited in an autosomal recessive way and can manifest in kittens from a young age. The specific gene mutation tested here is a mutation in the CYP11B1 gene. The CYP11B1 gene encodes for 11β-hydroxylase. A 11β-hydroxylase deficiency results in abnormal hormone levels.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | CYP11B1 |
| Chromosome | F2 |
| Mutation | c.1151G>A |
| Organ | Endocrine glands |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CAH |
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
Congenital Adrenal Hyperplasia (CAH) has only been reported in cats twice; however, it should be considered as a potential diagnosis in cats exhibiting specific symptoms consistent with the clinical features of the condition.
References
Pubmed ID: 22827537
Year published: 2012
Omia ID: 1661
Omia variant ID:
Turnaround information
- 15 working days