Results 251 to 260 of about 119,945 (311)
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21‐Hydroxylase Deficiency

Annals of the New York Academy of Sciences, 1997
A deficiency of 21-hydroxylase in the adrenal cortex results in insufficient cortisol production. The salt-wasting form of21-hydroxylase deficiency is characterized by inadequate aldosterone production, as well. Because the hypothalamic-adr enal negative feedback system is broken, excess adrenal androgens are produced.
R S, Newfield, M I, New
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Clinical outcomes in 21-hydroxylase deficiency

Current Opinion in Endocrinology, Diabetes & Obesity, 2021
Purpose of review The introduction of synthetic glucocorticoids 70 years ago made survival possible in classic 21-hydroxylase deficiency (21OHD). The currently used glucocorticoid therapy may lead to unphysiological dosing with negative consequencies on health in addition to the problems that may arise due to androgen over ...
Anna, Nordenström   +2 more
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Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes

Acta Endocrinologica, 1992
Congenital 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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Nonclassic 21-Hydroxylase Deficiency in Croatia

Journal of Pediatric Endocrinology and Metabolism, 2004
This is the first report of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Genetic analysis was performed on 18 Croatian patients with nonclassic CAH due to 21-OH deficiency using allele-specific PCR.
Dumić, Miroslav   +10 more
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Late-Onset 21-Hydroxylase Deficiency

Annals of Internal Medicine, 1982
Excerpt 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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Nonclassic 21-Hydroxylase Deficiency

Seminars in Reproductive Medicine, 2002
The 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, 1984
A 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
openaire   +2 more sources

Nonclassic 21-hydroxylase deficiency

Fertility and Sterility, 2006
Nonclassic 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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Epidemiology of 21-Hydroxylase Deficiency in Singapore

Journal of Pediatric Endocrinology and Metabolism, 2002
We 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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