In primary hyperaldosteronism, the therapy varies according to cause. Adenomas are amenable to surgical excision. By contrast, surgical intervention is not very beneficial in patients with primary hyperaldosteronism due to bilateral hyperplasia, which often occurs in children and young adults. These patients are best managed medically with an aldosterone antagonist such as spironolactone. The treatment of secondary hyperaldosteronism rests on correcting the underlying cause of the renin-angiotensin system hyperstimulation.
Adrenogenital syndromes refer to a group of disorders caused by androgen excess, which may stem from a number of etiologies, including primary gonadal disorders and several primary adrenal disorders. The adrenal cortex secretes two compounds—dehydroepiandrosterone and androstenedione—which require conversion to testosterone in peripheral tissues for their androgenic effects. Unlike gonadal androgens, adrenal androgen formation is regulated by ACTH; thus, excessive secretion can present as an isolated syndrome or in combination with features of Cushing disease. The adrenal causes of androgen excess include adrenocortical neoplasms and an uncommon group of disorders collectively designated congenital adrenal hyperplasia (CAH). Adrenocortical neoplasms associated with symptoms of androgen excess (virilization) are more likely to be carcinomas than adenomas. They are morphologically identical to other functional or nonfunctional cortical neoplasms.
CAH represents a group of autosomal recessive disorders, each characterized by a hereditary defect in an enzyme involved in adrenal steroid biosynthesis, particularly cortisol. In these conditions, decreased cortisol production results in a compensatory increase in ACTH secretion due to absence of feedback inhibition. The resultant adrenal hyperplasia causes increased production of cortisol precursor steroids, which are then channeled into synthesis of androgens with virilizing activity. Certain enzyme defects also may impair aldosterone secretion, adding salt loss to the virilizing syndrome. The most common enzymatic defect in CAH is 21-hydroxylase deficiency, which accounts for more than 90% of cases. 21-hydroxylase deficiency may range in degree from a total lack to a mild loss, depending on the nature of the underlying mutation. In the adrenal glands cortisol, aldosterone and sex steroids are synthesized from cholesterol through various intermediates. 21-hydroxylase is required for synthesis of cortisol and aldosterone but not sex steroids. Thus, a deficiency of this enzyme reduces cortisol and aldosterone synthesis and shunts the common precursors into the sex steroid pathway.
MORPHOLOGYInallcasesofCAH,theadrenalsarehyperplasticbilaterally,sometimesexpandingto10to15timestheirnormalweights.Theadrenalcortexisthickenedandnodular,andoncutsection,thewidenedcortexappearsbrownasaresultofdepletionoflipid.Theproliferatingcellsmostlyarecompact,eosinophiliccellsintermixedwithlipid-ladenclearcells.Hyperplasiaofcorticotroph(ACTH-producing)cellsispresentintheanteriorpituitaryinmostpatients.
The clinical manifestations of CAH are determined by the specific enzyme deficiency and include abnormalities related to androgen excess, with or without aldosterone and glucocorticoid deficiency. Depending on the nature and severity of the enzymatic defect, the onset of clinical symptoms may occur in the perinatal period, later childhood, or (less commonly) adulthood.
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