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Molecular Cloning of Steroid 21-Hydroxylase
Endocrine Research, 1984Congenital 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
Bo Dupont +5 more
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Regulation of 21-hydroxylase Gene Expression
Endocrine Research, 1989The steroid 21-hydroxylase (21-OH) gene is selectively expressed in the adrenal cortex and is transcriptionally regulated by ACTH. We examined the role of the 5'-flanking sequences of 21-OH in this regulated expression by analyzing their ability to direct the expression of a human growth hormone (hGH) reporter gene upon transfection into Y1 mouse ...
T. R. Flynn +5 more
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Current Opinion in Endocrinology, Diabetes & Obesity, 2018
Purpose of review Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated.
P. White
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Purpose of review Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated.
P. White
semanticscholar +1 more source
Mutations in Steroid 21-Hydroxylase (CYP21)
Human Mutation, 1994The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21-hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21-hydroxylase (P450c21) is a microsomal enzyme expressed in the adrenal gland that catalyzes ...
María Teresa Tusié-Luna +3 more
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Nonclassic 21-hydroxylase deficiency
Fertility and Sterility, 2006Nonclassic 21-hydroxylase deficiency is a frequent autosomal recessive disorder which causes decreased fertility and is easily treated. It occurs with the highest frequency of any other autosomal recessive disorder in humans.
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Nonclassic 21-Hydroxylase Deficiency
Seminars in Reproductive Medicine, 2002The nonclassic form of adrenal hyperplasia (NCAH) has been increasingly recognized in adolescent or adult hyperandrogenic patients. It is now widely accepted that neither the clinical presentation nor the androgen plasma levels can be used for the screening or diagnosis of NCAH in hyperandrogenic women, especially those presenting with a phenotype like
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Regulation of 21-Hydroxylase activity by steroids
Endocrine Research, 1995In this study, we investigated the effect of steroids on guinea pig and bovine adrenal steroidogenesis, especially 21-hydroxylase activity. Analysis of guinea pig adrenal steroids indicated the presence of high concentrations of androstenedione in the guinea pig adrenal; furthermore, in vitro studies using guinea pig adrenal cortex cells in primary ...
Yves Tremblay +4 more
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Steroid 21-Hydroxylase Deficiency in Mice*
Endocrinology, 1988The enzyme steroid 21-hydroxylase (21-OHase) plays a key role in adrenal steroidogenesis. Defects in this enzyme are responsible for one of the most common inborn errors of metabolism in humans. Duplicated genes for the enzyme are located in the class III region of the major histocompatibility complex (MHC), HLA.
Hideo Gotoh +4 more
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Recent Advances in 21-Hydroxylase Deficiency
Annual Review of Medicine, 1984A deficiency of 21-hydroxylase in the adrenal cortex results in insufficient cortisol production. The salt-wasting form of 21-hydroxylase deficiency is characterized by inadequate aldosterone production, as well. Because the hypothalamic-adrenal negative feedback system is broken, excess adrenal androgens are produced.
L S Levine, Maria I. New
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Phenotypic evolution of classic 21-hydroxylase deficiency
Clinical Endocrinology, 1996SummaryWe 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.
George Rosculet +6 more
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