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Diana Mossop

11 Beta Hydroxylase Deficiency

Definition

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.

Mortality/Morbidity

The patients who suffer from hypertensive symptoms tend to take up most of the number of deaths.

Manifestations of the Disease

11 beta hydroxylase deficiency often resembles the primary type of CAH when it comes to its symptoms. The manifestations can be any one of the following: virility of female infants; a baby girl genitalia looking more like a male's because of the enlarged clitoris; boys having pubic hair way before adolescence; some reported cases of irregularities on menstruation; infant salt wasting; body odor among adults; and even some uncommon cases of infertility among adolescent and mature females. Another possible symptom of this deficiency is hypertension. This symptom sets the 11 beta hydroxylase deficiency apart from the 21- hydroxylase deficiency type. About two-thirds of people diagnosed with this deficiency succumb to hypertension. The precise reason why hypertension develops is still undefined but some studies show that over secretion of DOC, which is a mineralcorticoid, could be a triggering factor. The first 26 cases of hypertension due to 11 beta hydroxylase deficiency were observed and reported way back in 1982.

Race

Jewish people who are descendants of Moroccans are more prone to have the illness. There is about 1 in every 5,000 to 7,000 births in Morocco and Israel that shows symptoms of the deficiency. In the United States, the statistics show 1 in every 100,000 births.

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The Phytobiophysics formulas are being used to help children at the Bentong Special Needs Centre in Malaysia.