21-hydroxylase
Quick Summary
21-hydroxylase is an enzyme crucial for synthesizing cortisol in the adrenal glands. A deficiency in this enzyme is the most common cause of congenital adrenal hyperplasia (CAH), an inherited disorder. This deficiency leads to reduced cortisol production and a compensatory increase in adrenocorticotropin. Consequently, adrenal androgens are overproduced, causing virilization in females and early sexual development in males. In severe cases, aldosterone production also decreases, leading to potentially fatal electrolyte imbalances. Treatment involves hormone replacement therapy.1
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- congenital adrenal hyperplasiaTypes and clinical manifestation
…adrenal hyperplasia is deficiency of 21-hydroxylase, an enzyme that catalyzes the next-to-last step in the synthesis of cortisol. In infants with partial 21-hydroxylase deficiency, the production of cortisol is near normal, but there is excess production of adrenal androgens. Excess androgen produced to overcome this deficiency during fetal life results…
Read More…adrenal hyperplasia is deficiency of 21-hydroxylase, an enzyme that catalyzes the next-to-last step in the synthesis of cortisol. In infants with partial 21-hydroxylase deficiency, the production of cortisol is near normal, but there is excess production of adrenal androgens. Excess androgen produced to overcome this deficiency during fetal life results…
Read More - congenital adrenal hyperplasiaTypes and clinical manifestation
Severe 21-hydroxylase deficiency becomes evident soon after birth and may be fatal if not recognized and treated promptly.
Read MoreSevere 21-hydroxylase deficiency becomes evident soon after birth and may be fatal if not recognized and treated promptly.
Read More