Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Known as: CAH1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, Congenital Adrenal Hyperplasia 1 
Decreased activity of the enzyme 21-hydroxylase, associated with mutation(s) in the CYP21A2 gene. The lack of activity of this enzyme produces a type… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1967-2018
020406019672018

Papers overview

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2011
2011
BACKGROUND Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase… (More)
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2007
2007
CONTEXT In male patients with congenital adrenal hyperplasia (CAH), testicular adrenal rest tumors are frequently found that may… (More)
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2007
2007
OBJECTIVE Testicular adrenal rest tumours (TART) are a well-known complication in adult male patients with congenital adrenal… (More)
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Highly Cited
2007
Highly Cited
2007
CONTEXT The chronic, often supraphysiological glucocorticoid doses used in congenital adrenal hyperplasia (CAH) might increase… (More)
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Highly Cited
2006
Highly Cited
2006
OBJECTIVES Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common inherited disorder of adrenal… (More)
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2004
2004
PURPOSE Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in increased adrenal androgen secretion… (More)
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Highly Cited
2002
Highly Cited
2002
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excessive androgen exposure in the gestational… (More)
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Highly Cited
1992
Highly Cited
1992
Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital adrenal hyperplasia due to 21… (More)
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Highly Cited
1988
Highly Cited
1988
The need for a reliable screening test for classical congenital adrenal hyperplasia prompted development of newborn screening… (More)
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Highly Cited
1987
Highly Cited
1987
Among 80 women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (40 with the simple virilizing form and 40… (More)
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