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 +7 more
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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 +4 more
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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 +3 more
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Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency. [PDF]
Clin Pediatr Endocrinol, 2008 Steroid 21-hydroxylase deficiency (21-OHD) accounts for 90-95% of congenital adrenal hyperplasia (CAH) cases. It is classified into three distinct clinical phenotypes: the salt-wasting (SW), simple virilizing (SV) and nonclassical forms (NC). As girls with the SW and SV forms of 21-OHD are exposed to high systemic levels of adrenal androgens during ...
Tajima T, Fujieda K.
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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline [PDF]
Journal of Clinical Endocrinology and Metabolism, 2018 Phyllis W Speiser +2 more
exaly +3 more sources
Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency. [PDF]
Proceedings of the National Academy of Sciences, 1991 Haplotypes of the complement 4 (C4) and steroid 21-hydroxylase [21-OHase; steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] repeated gene complex were studied in nine families with at least one member affected with a mild form of 21-OHase deficiency.
B Haglund-Stengler +3 more
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Structure of human steroid 21-hydroxylase genes. [PDF]
Proceedings of the National Academy of Sciences, 1986 We have determined the structure of cDNA and two genomic genes encoding steroid 21-hydroxylase [21-OHase; steroid 21-monooxygenase; steroid, hydrogen-donor:oxygen oxidoreductase (21-hydroxylating); EC 1.14.99.10]. If this cytochrome P-450 enzyme is defective, cortisol cannot be synthesized, resulting in congenital adrenal hyperplasia. The cDNA encoding
Perrin C. White, Maria I. New, Bo Dupont
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Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics [PDF]
Frontiers in EndocrinologyObjectiveThis 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 +7 more
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Response to Letter to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". [PDF]
J Clin Endocrinol Metab, 2019 Speiser PW +4 more
europepmc +2 more sources
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India. [PDF]
Indian J Med Res, 2017 Dubey S +8 more
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