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Congenital
adrenal hyperplasia |
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Congenital
adrenal hyperplasia was once considered a rare inherited disorder
with severe manifestations. Mild congenital adrenal hyperplasia,
however, is common, affecting up to 1% of all women in the persons
in the United States and frequently eluding diagnosis. Both classic
and nonclassic forms of the disease are caused by deficiencies in
the adrenal enzymes that are used to synthesize glucocorticoids. The
net result is increased production from the adrenal gland of
cortisol precursors and androgens. Even mild congenital adrenal
hyperplasia can result in life-threatening sinus or pulmonary
infections, orthostatic syncope, shortened stature and severe acne.
Women with mild congenital adrenal hyperplasia often present with
excess hair growth (hirsutism), irregular & skipped periods (oligomenorrhea)
or infertility. Congenital adrenal hyperplasia is diagnosed by
demonstration of excess cortisol precursors in the blood, especially
after a test injection of the drug ACTH. Diagnosis of congenital
adrenal hyerplasia in an unborn child can be made with special
testing after amniocentesis. Treatment includes carefully monitored
hormone replacement therapy. Recognition of the problem and timely
replacement therapy can reduce problems and enhance quality of life
in patients that are affected by congenital adrenal hyperplasia. |
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