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Underlying causes of adrenal insufficiency include inherted (congenital) adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison's disease (AAD).
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
Underlying causes of adrenal insufficiency include inherted (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 from the cat’s parents 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.
Caractéristiques cliniques
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.
Références
Pubmed ID: 22827537
Omia ID: 1661