A family of autosomal recessive genetic disorders causing decreased activity of any of the enzymes involved in the synthesis of cortisol from cholesterol. The most commonly affected enzymes are 21-hydroxylase and 11-hydroxylase, and each enzyme deficiency can itself be due to a variety of genetic mutations. The clinical manifestations depend on which enzyme is affected and the resultant deficiencies and build-up products produced. The most serious consequence is adrenal crisis and/or severe salt wasting due to lack of cortisol and/or aldosterone, which may prove fatal if undiagnosed. The condition is often easier to spot at birth in females, who may have indeterminate genitalia due to high levels of testosterone in utero. Adrenal hyperplasia occurs due to excessive stimulation of the glands by ACTH (adrenocorticotrophic hormone) in response to the resultant cortisol deficiency of these conditions.
Subjects: Chemistry — Medicine and Health.