Results 1 to 10 of about 76,203 (204)

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach [PDF]

Frontiers in Endocrinology, 2022
Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases.
María Arriba, María Arriba, Begoña Ezquieta, Begoña Ezquieta   +3 more
doaj   +3 more sources

Steroid 21-hydroxylase gene variants and late-life depression [PDF]

BMC Research Notes, 2021
Objectives A feature of late-life depression is alterations of the stress hormone system. The CYP21A2 gene encodes for the steroid 21-hydroxylase enzyme which is required for the biosynthesis of mineralocorticoids and glucocorticoids, two main components
Marie-Laure Ancelin, Joanna Norton, Karen Ritchie, Isabelle Chaudieu, Joanne Ryan   +4 more
doaj   +2 more sources

Corticosteroid Biosynthesis Revisited: No Direct Hydroxylation of Pregnenolone by Steroid 21-Hydroxylase [PDF]

Frontiers in Endocrinology, 2021
Cytochrome P450s (CYPs) are an essential family of enzymes in the human body. They play a crucial role in metabolism, especially in human steroid biosynthesis. Reactions catalyzed by these enzymes are highly stereo- and regio-specific.
Steffen Loke, Anna Stoll, David Machalz, Francesco Botrè, Francesco Botrè, Gerhard Wolber, Matthias Bureik, Maria Kristina Parr   +7 more
doaj   +2 more sources

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

J Clin Endocrinol Metab, 2018
Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC.   +10 more
europepmc   +2 more sources

Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE. [PDF]

J Biol Chem, 2015
Pallan PS, Wang C, Lei L, Yoshimoto FK, Auchus RJ, Waterman MR, Guengerich FP, Egli M.   +7 more
europepmc   +2 more sources

Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics [PDF]

Frontiers in Endocrinology
ObjectiveThis study aimed to investigate the clinical, steroid hormones and genetic characteristics of Chinese children with 21-hydroxylase deficiency (21OHD).MethodsThis retrospective study included 115 children with 21OHD.
Hemeng Chong, Guocui Xue, Yalei Pi, Yanan Zhang, Yuqian Li, Yutong Xing, Baorong Chen, Huifeng Zhang   +7 more
doaj   +2 more sources

Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision [PDF]

Biology Open
Irina Bacila, Lara Oberski, Nan Li, Karl-Heinz Storbeck, Vincent T. Cunliffe, Nils Krone   +5 more
doaj   +2 more sources

Specific characteristics of metabolomics as assessed by gas chromatography-mass spectrometry in patients with adrenocortical cancer and with adrenal incidentalomas in congenital adrenal hyperplasia

Alʹmanah Kliničeskoj Mediciny, 2022
Background: Prolonged episodes of uncontrolled congenital adrenal hyperplasia (CAH) have been shown to result in the occurrence of secondary adrenal neoplasms.
Zulfiya R. Shafigullina, Ludmila I. Velikanova, Natalia V. Vorokhobina, Ekaterina V. Malevanaya, Elena G. Strelnikova, Vagan Yu. Bokhian, Timur A. Britvin, Ivan S. Stilidi   +7 more
doaj   +1 more source

NON-CLASSIC 21 HYDROXYLASE DEFICIENCY CAUSED BY NEW COMPOUND HETEROZYGOUS MUTATIONS: A CASE REPORT AND LITERATURE REVIEW [PDF]

精准医学杂志, 2023
Objective To report the genetic information of a patient with non-classic 21 hydroxylase deficiency (21-OHD) for enriching the genetic database of this disease.
QI Mengmeng, WANG Xuemei, LIU Yunting, WANG Qian, XIN Qianyu, LIN Hua, LYU Wenshan, YANG Lili
doaj   +1 more source

Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation

International Journal of Neonatal Screening, 2023
There are mixed reports on the inclusion and use of 21 deoxycortisol (21DF) as the primary decision marker for classical 21-hydroxylase deficiency.
Ronda F. Greaves, Monish Kumar, Nazha Mawad, Alberto Francescon, Chris Le, Michele O’Connell, James Chi, James Pitt   +7 more
doaj   +1 more source