Results 241 to 250 of about 57,073 (302)
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Late-Onset 21-Hydroxylase Deficiency
Annals of Internal Medicine, 1982Excerpt To the editor: Since our article on the diagnosis of late-onset 21-hydroxylase deficiency was published (1), we have been asked the best way to do the 30-minute adrenocorticotrophic hormone...
G P, Chrousos +3 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.
M I, New, L S, Levine
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Epidemiology of 21-Hydroxylase Deficiency in Singapore
Journal of Pediatric Endocrinology and Metabolism, 2002We report the incidence and epidemiology of 21-hydroxylase deficiency in Singapore, based on a retrospective study of all known patients diagnosed with classical 21-hydroxylase deficiency in the past 21 years. The database was obtained from the case registry and questionnaire methodology, with 100% coverage of all practising pediatricians in Singapore.
Loke, K.Y. +3 more
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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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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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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.
H, Gotoh +4 more
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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.
W H, Hoffman +6 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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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 ...
M, Bormann +4 more
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