Results 311 to 320 of about 119,685 (338)

21-Hydroxylase Deficiency

2018
The steroid 21-hydroxylase (CYP21) enzyme is required for cortisol and aldosterone biosynthesis, and its deficiency is the most common cause of congenital adrenal hyperplasia. The disorder is characterised by a variable degree of renal salt-losing caused by aldosterone insufficiency and virilisation as a result of exposure to excess androgens produced ...
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Steroid 21-Hydroxylase

1993
Cortisol synthesis in the zona fasciculata of the adrenal cortex requires five enzymatic steps: the cholesterol side chain is cleaved to yield pregnenolone, which is dehydrogenated at the 3β position to progesterone, which is successively hydroxylated at the 17α, 21 and 11β positions. The side-chain cleavage and the three hydroxylations are mediated by
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Phenotypic evolution of classic 21-hydroxylase deficiency

Clinical Endocrinology, 1996
SummaryWe describe a female patient who was diagnosed and treated at birth for a classic form of salt‐losing congenital adrenal hyperplasia. At 17 years of age, against medical advice, she discontinued both mineralocorticoid and glucocorticoid replacement with no resulting clinical symptoms other than the occurrence of amenorrhoea.
W H, Hoffman, M Y, Shin, P A, Donohoue, S W, Helman, S L, Brown, G, Rosculet, V B, Mahesh   +6 more
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Molecular Cloning of Steroid 21-Hydroxylase

Endocrine Research, 1984
Congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency is HLA-linked. The haplotype HLA-(A3);Bw47;DR7 is strongly associated with 21-OH deficiency and always carries a null allele at the complement C4A (Rodgers) locus. It seemed likely that this haplotype carries a deletion encompassing both the C4A and 21-OH loci. We hypothesized that
P C, White, B, Dupont, M I, New
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Molecular pathology of 21‐hydroxylase deficiency

Journal of Inherited Metabolic Disease, 1994
SummarySteroid 21‐hydroxylase deficiency is a recessively inherited disorder of adrenal steroidogenesis. Different clinical variants map to a single geneCYP21B, which maps within the HLA complex and is located about 30 kb proximal to a very closely related 21‐hydroxylase pseudogene,CYP21A.
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21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Neonatal Network, 2010
CONONGENITAL ADRENAL hyperplasia (CAH) is an inborn error of metabolism that can produce life-threatening disease in the first one to three weeks of life, unless properly diagnosed and managed. This autosomal recessive disease results in insufficient biosynthesis of cortisol due to an enzyme defect in the adrenal gland. CAH due to 21-hydroxylase (21-OH)
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21-hydroxylase deficiency congenital adrenal hyperplasia

The Journal of Steroid Biochemistry and Molecular Biology, 1994
Congenital adrenal hyperplasia (CAH) results from an enzymatic block at any stage in the synthesis of cortisol. All enzyme defects causing CAH are autosomal recessive traits. It is a relatively common disease, occurring in 1 in 5000 to 1 in 15,000 births in most populations.
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Molecular Genetics of 21- Hydroxylase Deficiency

2010
More than 95% of all cases of congenital adrenal hyperplasia are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. The severity of the clinical symptoms varies according to the level of residual 21-hydroxylase activity. The CYP21A2 gene is located in the HLA class III region, as a component of so called RCCX modules
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21-Hydroxylase Deficiency

The Endocrinologist, 1992
Louisa Laue, Gordon B. Cutler
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Humanized 21-hydroxylase Mouse Model

2022
Supplementary ...
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