Disease Description: This familial disease is characterized by reduced cortisol effects, due to a GC receptor (GR) defect, which is compensated by hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis.
Inherit Mode: autosomal recessive
Disease Symptom: As a consequence, patients present with signs of adrenal overproduction of mineralocorticoids (hypertension and hypokalaemic alkalosis) and, in females, of androgens (hirsutism, male pattern of baldness, menstrual irregularities).
Disease Cause: -
Disease Diagnose: -
Treat Method: -
Breeder Advice: -
Disease Description Source: Link
2019 |
Yamanaka,K.,Okuda,M.,Mizuno,T.: :
Functional characterization of canine wild type glucocorticoid receptor and an insertional mutation in a dog. BMC Vet Res 15:363, 2019. Pubmed reference: 31651346 . DOI: 10.1186/s12917-019-2129-9 . |