Results 321 to 330 of about 2,389,640 (367)
Some of the next articles are maybe not open access.
Clinical outcomes in 21-hydroxylase deficiency
Current Opinion in Endocrinology, Diabetes & Obesity, 2021Purpose 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 ...
A. Nordenström, S. Lajic, H. Falhammar
semanticscholar +4 more sources
Disorders of Steroidogenesis, 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 ...
G. Rumsby
semanticscholar +3 more sources
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 ...
G. Rumsby
semanticscholar +3 more sources
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
New England Journal of Medicine, 2020CAH Due to 21-Hydroxylase Deficiency Congenital adrenal hyperplasia, a common autosomal recessive disorder, is potentially life-threatening in its classic form and may be asymptomatic or cause fema...
D. Merke, R. Auchus
semanticscholar +1 more source
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.
Ron S. Newfield, Maria I. New
openaire +3 more sources
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.
Ron S. Newfield, Maria I. New
openaire +3 more sources
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
openaire +2 more sources
Nonclassic 21-Hydroxylase Deficiency in Croatia
Journal of Pediatric Endocrinology and Metabolism, 2004This 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.
Jasenka Ille +10 more
openaire +4 more sources
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
openaire +2 more sources
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...
Gordon B. Cutler +3 more
openaire +3 more sources
Journal of Biomolecular Structure and Dynamics, 2019
Congenital adrenal hyperplasia is an inherited autosomal recessive disorder related to deficient cortisol synthesis. The deficiency of steroid 21-hydroxylase (cytochrome P450 21A2), an enzyme involved in cortisol synthesis, is responsible for ∼95% of ...
Jorddy Neves Cruz +3 more
semanticscholar +1 more source
Congenital adrenal hyperplasia is an inherited autosomal recessive disorder related to deficient cortisol synthesis. The deficiency of steroid 21-hydroxylase (cytochrome P450 21A2), an enzyme involved in cortisol synthesis, is responsible for ∼95% of ...
Jorddy Neves Cruz +3 more
semanticscholar +1 more source