congenital adrenal hyperplasia

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congenital adrenal hyperplasia

n.
Any of a group of genetic disorders characterized by an enzyme deficiency that leads to insufficient production of cortisol and often aldosterone by the adrenal glands, typically resulting in abnormally high androgen secretion, masculinization of the female genitourinary system, high blood pressure, and, in the most severe cases, uncontrolled blood sodium depletion.
References in periodicals archive ?
Newborns are screened for diseases including Glucose 6 Phosphate Dehydrogenase (G6PH), cystic fibrosis, biotinidase, thalassaemia, sickle cell disease, congenital adrenal hyperplasia, congenital hypothyroidism and phenylketonuria.
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.
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