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. Mild congenital adrenal hyperplasia is much more common than the classic form. 2,3,5,6 Men and women with mild congenital adrenal hyperplasia may have normal height compared with the general population, yet shortened stature when compared with their parents. Near-syncope may be a chronic or recurrent problem in these patients, and they frequently have a history of severe acne and mild hyperpigmentation. Some people with mild congenital adrenal hyperplasia can mount limited glucocorticoid stress responses and are thus never recognized as having the disorder.