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This condition is also more properly known as congenital adrenal hyperplasia. This is a group of conditions of similar source: a family of autosomal recessive disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol, the stress fighting hormone. The master hormonal regulatory gland, the pituitary, sensing the deficiency, secretes massive amounts of the stimulating hormone corticotropin to bring the cortisol levels up to normal. This hormone in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects on the fetus and child, leading to so-called "virilization."
Virilization means that the clitoris of girls is enlarged, and may resemble the male penis to the point that the sex of the child is questioned or mistaken. Males have enlarged penile size. Virilized children grow abnormally rapidly because of accelerated bone maturation and go through puberty very early but ultimately wind up being quite short as adults. See bone age test.
All of the forms of congenital adrenal hyperplasia are caused by genetically induced enzyme deficiencies in the pathways that produce steroid hormones. Deficiency of the enzyme 21-hydroxylase accounts for 95% of affected patients.
About 75% of affected infants have the "salt-losing" form of the disorder, in which the salt-retaining steroid hormone is deficient . This is potentially fatal if undiagnosed. Lacking this hormone, the baby can progressively lose body salt and go into shock. For this reason, newborn screening programs, using heelstick blood have been developed to detect 21-hydroxylase deficiency. They are required in most states.
Treatment of this condition involves hormone replacement. Treatment is monitored by measures of blood salt composition (electrolytes), by suppression of overly-rapid sexual maturation, and by monitoring of the skeletal maturation rate by bone age testing.