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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… 
National Institutes of Health

Related topics

Related topics

8 relations
21-hydroxylase deficiencyAbdominal CavityAdrenal GlandsCYP21A2 gene

Broader (2)

Congenital adrenal hyperplasiaLate-onset congenital adrenal hyperplasia

Papers overview

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2012
2012
A case of recurrent labial adhesions in a 15-month-old child with asymptomatic non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Abstract Labial adhesions (synechia vulvae) are a relatively common disorder of the external genitalia in prepubertal girls. They… 
2008
2008
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
  • 2008
  • Corpus ID: 29614442
Alternative Names Adrenal Hyperplasia III 21-@Hydroxylase Deficiency CYP21 Deficiency Congenital Adrenal Hyperplasia 1 CAH1… 
1997
1997
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
1997
1997
Impairment of 11β-hydroxylase but not 21-hydroxylase in adrenal 'incidentalomas'
Recent reports have shown an exaggerated response of 17-hydroxyprogesterone in up to 70% of patients with incidentally detected… 
1994
1994
Plasma 3 beta-hydroxy-delta 5-steroids in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
There is little information about the plasma concentrations of 3 beta-hydroxy-delta 5-steroids (delta 5-steroids) in untreated… 
Highly Cited
1987
Highly Cited
1987
Adrenal status during the first month of life in mature and premature human infants.
Measurements of 17-hydroxyprogesterone (17-OHP) in blood collected onto filter paper after heel puncture by lancet and steroid… 
1980
1980
Gonadal dysfunction in adult men with congenital adrenal hyperplasia.
Two adult males are described with congenital adrenal hyperplasia (21-hydroxylase deficiency). Patient 1 was receiving therapy… 
1978
1978
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Three otherwise healthy relatives of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and salt… 
1978
1978
Intelligence of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, their parents and unaffected siblings.
IQ measurements were performed in 33 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (110.6 +/- 13… 
1972
1972
Steroid excretion patterns in urine from two boys in the neonatal period with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.