Abstract
A deficiency of 21-hydroxylase in the adrenal cortex results in insufficient cortisol production. The salt-wasting form of21-hydroxylase deficiency is characterized by inadequate aldosterone production, as well. Because the hypothalamic-adr enal negative feedback system is broken, excess adrenal androgens are produced. This disordered corticosteroid production causes hormonal and clinical symptoms, including pseudohermaphrod itism in genetic females and disordered puberty in both males and females. There is a spectrum of the time of onset and the severity of these symptoms. This disorder is inherited in an autosomal recessive manner. The 21-hydroxylase deficiency is genetically linked to the human leukocyte antigen (HLA)
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