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Congenital Adrenal Hyperplasia (CAH)

In both 21-hydroxylase deficiency and 11b-hydroxylase deficiency, which together account for about 95% of all Congenital Adrenal Hyperplasia (CAH) cases, 17-a-hydroxyprogesterone (17-OHP) is increased.  17-OHP is a precursor of cortisol.  The severity of CAH ranges from “classic, severe” salt-wasting (SW) to “classic, less severe simple-virilizing (SV) to “mild, nonclassic” forms.  Symptoms of SW CAH include vomiting, diarrhea, failure to thrive, lethargy, and dehydration.  Sodium concentrations will become extremely low and circulatory collapse, shock and death will occur if untreated.  Clinical diagnosis in females is possible, due to ambiguous genitalia.  

Screening Method:

Measurement of 17-OHP with a time-resolved fluoroimmunoassay.  There are rarer forms of CAH which will not be identified through the measurement of 17-OHP.  

Treatment:

Medication to replace cortisol and aldosterone.  Surgical correction of ambiguous genitalia in females. 

Incidence:

1:16,000 births