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 ?
The two clinical studies that were halted include a single dose study in adolescent females with classic congenital adrenal hyperplasia and a multiple dose study in adults with classic congenital adrenal hyperplasia.
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.
Diurnal's products have potential to help patients suffering from diseases caused by cortisol defi-ciency, which include congenital adrenal hyperplasia and adrenal insufficiency.
The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.
Review of Outcome Information in 46, XX Patients with Congenital Adrenal Hyperplasia Assigned/Reared Male:What Does It Say about Gender Assignment?
Primary AI is caused by impairment of the adrenal glands, most often due to Addison's disease, a destruction of the adrenal cortex by an autoimmune disease, and Congenital Adrenal Hyperplasia, a gene mutation affecting cortisol production.
Cameron Van Dijk was a newborn when first admitted to the University Hospital of North Tees in 2000 and was diagnosed with Congenital Adrenal Hyperplasia (CAH).
Michael Bruton, 20 Student Michael Bruton, 20, suffers from a rare form of diabetes called congenital adrenal hyperplasia, a genetic condition that could put him in a deadly coma.
Congenital adrenal hyperplasia can have a characteristic appearance of multiple bilateral adrenal masses containing extensive macroscopic fat that could result from prolonged stimulation of the adrenal cortex by elevated ACT levels (Figure 7).
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