نتایج جستجو برای: hydroxylase adrenal hyperplasia

تعداد نتایج: 99554  

2010
Selma Feldman Witchel Ricardo Azziz

PURPOSE OF REVIEW Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiol...

Journal: :American family physician 1999
M A Deaton J E Glorioso D B McLean

Congenital adrenal hyperplasia was once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 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...

2014
MARZENA MACIEJEWSKA-JESKE ADAM CZYŻYK KRZYSZTOF KATULSKI AGNIESZKA PODFIGURNA-STOPA BŁAŻEJ MĘCZEKALSKI

Congenital adrenal hyperplasia (CAH) is an autosomal recessive defect in steroidogenesis, mostly affecting 21-hydroxylase enzyme deficiency. Depending on the clinical level of 21-hydroxylase deficiency, three main types of CAH are differentiated: (1) classical salt-wasting (2) simple virilizing (classical non-salt-wasting) (3) non-classical. CAH prevalence is estimated at 1 : 14 000-1 : 10 000....

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