Adrenal hyperplasia, congenital, CYP11B1-related(CAH)
Congenital Adrenal Hyperplasia · 11-beta-hydroxylase deficiency · CYP11B1 deficiency · Adrenogenitales Syndrom · Angeborene Nebennierenhyperplasie
What it is
This condition is an inherited disorder of the adrenal glands, which are hormone-producing organs located near the kidneys. Due to a genetic defect in the CYP11B1 enzyme, the glands cannot produce normal amounts of cortisol, a vital hormone that helps regulate metabolism and stress responses. This deficiency causes the body to overproduce male sex hormones, known as androgens.
How it presents
Symptoms typically appear in young animals and include stunted growth, excessive thirst, frequent urination, and abnormal development of the external genitalia. In severe cases, pets may experience sudden, life-threatening circulatory collapse.
Treatment
This condition is incurable and requires lifelong, daily hormone replacement therapy alongside regular veterinary monitoring. The lifetime cost of management and diagnostic testing typically ranges from €3,000 to €10,000.
How it's tested
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.