III. CAH WITHOUT TREATMENT

Cortisol and aldosterone are necessary to life. Prior to the availability of salt-retaining hormones and glucocorticoids, infants with complete 21-hydroxylase deficiency (salt - losing form) died shortly after birth as a result of a salt-losing crisis.

In the simple-virilizing form, cortisol is normal or near normal and aldosterone can increase to compensate for the salt losing tendency. Hence, these infants can survive despite lack of treatment. However, both girls and boys are subjected to progressive masculinization.

This includes the early appearance of body hair, acne and increased musculature in both sexes. At puberty, normal feminization of girls fails to occur (no breast development, no menstruation). For women left untreated, fertility is compromised due to the absence of ovulation. In both sexes, the large amount of androgens produce rapid growth in height, but also early bone maturation resulting in short stature at adulthood.