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Diana Mossop

21 hydroxylase deficiency

Definition

21-hydroxylase deficiency is also called as congenital adrenal hyperplasia and is a disorder that is often inherited. This disorder affects the adrenal glands which are located above the kidneys and these glands produce hormones that are responsible for regulating many important human body functions. The two hormones, cortisol and aldosterone, are produced by an enzyme called the 21-hydroxylase. Patients that have 21-hydroxylase deficiency lack the 21-hydroxylase enzyme which then affects the cholesterol conversion to aldosterone and cortisol. When the precursors of these two hormones are stored excessively in the adrenal glands, they are changed into androgens (which are male sex hormones). Whether the patient is male or female, growth development could be hampered because of this deficiency.

Inheritance

This deficiency occurs when the parents of the patient have autosomal recessive conditions and each of them is a carrier of the gene that has mutated. More often than not, both parents do not show any symptoms.

The Three Kinds 21-Hydroxylase Deficiency

The Simple virilizing 21-hydroxylase deficiency is the first type. With this type, the androgens cause masculinization of the female genitalia at birth. It is noted, though, that the uterus and ovaries remain normal and develop the typical way. The second type which is the Salt-loss 21-hydroxylase deficiency is a result of the loss of activity of the enzymes. With this type, there is too little production of aldosterone which results into the kidneys not reabsorbing sodium. The third kind of deficiency which is called as the non-classic form shows that the enzymes are at a moderate level. With this type, males and females can show signs of excessive androgen after birth. The classic forms of 21-hydroxylase deficiency shows up at 1:15,000 births. The non-classic form, however, is estimated at 1:100 individuals.

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