Medicinski pregled
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Congenital adrenal hyperplasia is generally considered to be a rare disease; however, the incidence of severe forms of CAH is probably greater than 1 in 10,000 people and the incidence of milder forms is probably 10 times higher. It is a group of autosomal recessive disorders of adrenal steroidogenesis caused by a genetic disorder in one of the steroidogenic enzymes. These disorders impair cortisol synthesis, resulting in stimulation of pituitary proopiomelanocortin and hypersecretion of adrenocorticotropin, which in turn causes adrenal growth. ⋯ In "classic" form, affected newborns present with symptoms and sings of adrenal insufficiency of varying degree and ambiguous genitalia in both sexes. The "late onset" form is a mild type of disorder. It has been described in women with hirsutism and menstrual abnormalities and may be quite common. (ABSTRACT TRUN