With congenital adrenal hyperplasia (=CAH) there are several enzymes missing in the adrenal gland cortex from an inherited enzyme deficiency.
One of the more common ones is called “21-hydroxylase deficiency”. It is the cause of about 90% of all the CAH and occurs about once every 12,000 live births. With this metabolic defect in the adrenal gland blood levels show low cortisol and aldosterone hormones, but a high level of progesterone, DHEA and androstenedione.
The end result is a male appearance of the female child born with this enzyme defect.
The DHEA and androstenedione have testosterone-like effects.
When the fetus develops and leads to a phallus-like structure in the area of the clitoris, but it is smaller than a penis.There is an opening at the base of this phallus, which is the original fetal urogenital sinus. Often there are various degrees of missing fusion of the labioscrotal folds. Because of the lack of aldosterone there is loss of salt with an associated high potassium level in the blood. Plasma renin levels are high as well due to the low sodium level. ACTH levels are high because of the missing feedback from the absent cortisol. All of these facts are utilized for diagnostic testing.
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