The clinical symptoms of CAH directly result from either the deficiencies in mineralocorticoid
or glucocorticoid production or from the overproduction of adrenal androgens.
13) High-dose estrogens may induce sodium retention and volume expansion through an interaction with mineralocorticoid
receptors or effects on 11 [beta]-HSD activity.
If aldosterone is also deficient, it is replaced with oral doses of a mineralocorticoid
, called fludrocortisone acetate (Florinef[R]), which is taken once a day.
Genetic deficiency of 11-[beta]-hydroxysteroid dehydrogenase type 2 (11[beta]-HSD2) leads to apparent mineralocorticoid
excess and sometimes presents in adulthood.
Aldosterone ll[beta]-hydroxy- and mineralocorticoid
metabolites give androsterone further information about the extent of ll[beta]-hydroxy- adrenal depletion (or lack thereof).
Chemicals and toxins, such as mineralocorticoids
and derivatives, anabolic steroids, monoamine oxidase inhibitors, lead, cadmium, and bromocriptine may induce hypertension.
The cascade is made worse by the inability of the glucocorticoid system to respond to the stress caused by the absence of mineralocorticoids
If adrenal dysfunction is more chronic, the mineralocorticoids
also become weakened and it is hard to maintain enough aldosterone to keep up the blood pressure and energy.
channels in the cortical collecting duct by AVID and mineralocorticoids
The resulting hormone imbalances with decreased glucocorticoids and mineralocorticoids
and increased 17[alpha]-hydroxyprogesterone (17-OHP) and androgens can lead to life-threatening salt-wasting crises in the newborn period and incorrect gender assignment of virilized females (1, 2).
Consequent to profound deficiency or the complete absence of activity of 21-hydroxylase, severe forms of CAH manifest as salt-wasting attributable to impaired synthesis of mineralocorticoids
Additive therapy with a mineralocorticoid
antagonist like spironolactone can provide better blood pressure control.