Thus, simple blood pressure measurements may help determine the underlying type of congenital adrenal hyperplasia. Some of these abnormalities result in severe dysfunction of the enzyme while others result in only partial impairment. The classic form of congenital adrenal hyperplasia occurs when cortisol synthesis is extremely low. The disorder usually manifests in childhood. Hypersecretion of adrenal androgens causes masculinization of the external genitalia of the female fetus.
Affected infants can have ambiguous genitalia or even erroneous gender assignment.
Children with classic congenital adrenal hyperplasia may lack sufficient amounts of cortisol to mount a stress response, and they frequently succumb to minor illnesses. Those who survive to adulthood experience premature puberty. Premature closure of the epiphyses results in short stature even though these children grow at an accelerated rate when young. Severe acne is also a frequent problem. Adult women with classic congenital adrenal hyperplasia may have pronounced hirsutism and amenorrhea.