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Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Nokoff NJ, Buchanan C, Barker JM.
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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, Svetlana, Lajic, Henrik, Falhammar   +2 more
openaire   +3 more sources

Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency

Clinical Endocrinology, 2022
Overall fertility and pregnancy outcomes in patients with nonclassic congenital adrenal hyperplasia (NCCAH) have been poorly studied. It has been suggested that hydrocortisone (HC) may decrease the time to conceive (TTC) and the rate of miscarriage in ...
Camille Carrière, L. Nguyen, C. Courtillot, Isabelle Téjédor, Z. Chakhtoura, C. Bellanné-Chantelot, V. Tardy, M. Leban, P. Touraine, A. Bachelot   +9 more
semanticscholar   +1 more source

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

New England Journal of Medicine, 2020
CAH 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

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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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, A, Munabi, G B, Cutler, D L, Loriaux   +3 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, Ille, Jasenka, Žunec, Renata, Plavšić, Veselin, Francetić, Igor, Škrabić, Vesna, Janjanin, Nevena, Špehar, Anita, Wei, JiQing, Wilson, Robert C., New, Maria I.   +10 more
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