Read about 21 hydroxylase deficiency medical facts: what is the definition of 21 hydroxylase deficiency, endocrine treatment, inheritance, the three kinds 21 hydroxylase deficiency, and related 21 hydroxylase deficiency diseases.

Definition: What is "21 hydroxylase deficiency"?


21 hydroxylase deficiency definition: 21-hydroxylase deficiency is also called as congenital adrenal hyperplasia & is a disorder that is often inherited. This disorder affects the adrenal glands which are located above the kidneys & these glands produce hormones that are responsible for regulating many important human body functions. The two hormones, cortisol & 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 & 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.

Endocrine Treatment: How to Treat "21 hydroxylase deficiency"?

Cortisol treatment can come in the form of tablets or suspension. Oral cortisol is often destroyed by gastric acids that is why it is necessary to have the treatment dose doubled as compared to the normal cortisol production. Cortisol disappears rapidly on the bloodstream so it is imperative to administer the a third of the daily dose thrice each day. Prednisolone is approximately 5 times more dynamic than cortisol that is why the daily dose should be 3-6 milligrams for every square meter of body surface area. This should be taken orally every 24 hours. Glucocorticoids are best given when surgery is being planned or when the patient is down with a high-grade fever. This treatment is also advisable when the patient incurred any injuries such as broken bones There are more available options to a patient with 21-hydroxylase deficiency. All he has to do is to consult his physician & they will be able to discuss the pros & cons of the different treatments.


This deficiency occurs when the parents of the patient have autosomal recessive conditions & 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 & ovaries remain normal & 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 & 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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