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11 Beta Hydroxylase Deficiency Report an error in disease page


It is important to understand what congenital adrenal hyperplasia (CAH) is before the nature of 11 beta hydroxylase deficiency can be fully explained. CAH refers to any one of the many autosomal recessive illnesses that result from flaws in cortisol synthesis steps done by the adrenal glands. All of the types of CAH have either overproduction or malfunctioning of sex steroids. 11 beta hydroxylase deficiency is just one of the types of CAH and is a result of mutation in the gene called CYP11B1. This type is next only to 21-hydroxylase deficiency when it comes to its prevalence, comprising only 5-8% of the entire number of cases.


Symptoms and Signs



In the case of salt wasting, an intravenous saline or dextrose could be used to stabilize the patient's condition. Like most cases of CAH, it is necessary to have enough doses of glucocorticoid replacement for the suppression of androgen and mineralocorticoid. Hypertension can also be ameliorated using this method. It is necessary to have balanced dosages as oversuppression could also lead to growth retardation.

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