Results 21 to 30 of about 75,592 (343)

Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Journal of Clinical Endocrinology and Metabolism, 2021
Context Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is characterized by impaired cortisol synthesis and excess androgen production. Corticotropin-releasing factor type 1 receptor (CRF1R) antagonism may decrease adrenal
R. Auchus, K. Sarafoglou, P. Fechner, M. Vogiatzi, E. Imel, S. Davis, N. Giri, Julia Sturgeon, Eiry W. Roberts, J. Chan, R. Farber   +10 more
semanticscholar   +1 more source

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period.
Tomoyo Itonaga, Yukihiro Hasegawa, Yukihiro Hasegawa   +2 more
doaj   +1 more source

Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Frontiers in Endocrinology, 2021
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a disorder of adrenal steroid biosynthesis, leading to hypocortisolism, hypoaldosteronism, and hyperandrogenism.
M. Verhees, M. Engels, P. Span, F. Sweep, A. V. van Herwaarden, H. Falhammar, A. Nordenström, E. Webb, A. Richter-Unruh, C. Bouvattier, Aude Brac de la Perrière, W. Arlt, N. Reisch, B. Köhler, M. Rapp, N. Stikkelbroeck, N. Roeleveld, H. Claahsen-van der Grinten   +17 more
semanticscholar   +1 more source

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

JCRPE, 2021
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj   +1 more source

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
PurposeThe purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype.MethodsThis was a retrospective study of the ...
Yangho Yoo, Mi Sun Chang, Jieun Lee, Sung Yoon Cho, Sung Won Park, Dong-Kyu Jin, Hyung-Doo Park   +6 more
doaj   +1 more source

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

European Journal of Human Genetics, 2020
Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family ...
S. Baumgartner-Parzer, M. Witsch-Baumgartner, W. Hoeppner   +2 more
semanticscholar   +1 more source

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2016
The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately
Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
doaj   +1 more source

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.

Journal of Clinical Endocrinology and Metabolism, 2010
OBJECTIVE We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). PARTICIPANTS The Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced ...
P. Speiser, R. Azziz, L. Baskin, L. Ghizzoni, T. Hensle, D. Merke, H. Meyer-Bahlburg, W. Miller, V. Montori, S. Oberfield, M. Ritzén, P. White   +11 more
semanticscholar   +1 more source

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Clinics, 2011
INTRODUCTION: 21-hydroxylase deficiency is an autosomal recessive disorder that causes glucocorticoid deficiency and increased androgen production.
Ricardo P. P. Moreira, Alexander A. L. Jorge, Larissa G. Gomes, Laura C. Kaupert, João Massud Filho, Berenice B. Mendonca, Tânia A. S. S. Bachega   +6 more
doaj   +1 more source

Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia. [PDF]

Front Endocrinol (Lausanne)
Aldalaan H, Alsagheir A, Alghamdi N, Alhuthil R, Almslam M, Al-Hamed MH.   +5 more
europepmc   +3 more sources