Results 161 to 170 of about 34,531 (209)
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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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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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Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes
Acta Endocrinologica, 1992Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder with different clinical manifestations, that results from mutations in the P-450(c21) gene. Direct sequence analysis of P-4 50(c21) genes in a family demonstrates that patients with different clinical forms of congenital adrenal hyperplasia can have identical P-4 50(c21 ...
Michael Bormann +4 more
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Molecular pathology of 21‐hydroxylase deficiency
Journal of Inherited Metabolic Disease, 1994SummarySteroid 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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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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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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Genetics of steroid 21-hydroxylase deficiency
Trends in Genetics, 1985Abstract Classical and non-classical adrenal hyperplasia due to steroid 21-hydroxylase deficiency (210HD) are HLA-linked, autosomal recessive disorders characterized by a variable degree of hyperandrogenism and cortisol deficiency. Direct screening of newborns has placed the incidence of the classical disease at 1 : 5000 to 1 : 15 000, whereas the ...
Maria I. New, Phyllis W. Speiser
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Late-Onset 21-Hydroxylase Deficiency
2021The two preceding chapters discussed the classical forms of 21-hydroxylase deficiency, that is, the salt wasting and simple virilizing forms. Late-onset, non-classical 21-hydroxylase deficiency is much more common than these, and it is usually diagnosed in young women with symptoms of androgen excess.
Peter Igaz, Peter Igaz
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Molecular Genetics of 21- Hydroxylase Deficiency
2010More 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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