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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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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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.
europepmc +4 more sources
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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Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision [PDF]
Biology OpenIrina Bacila +5 more
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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 +7 more
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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
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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 +7 more
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Phenotypically Male Congenital Adrenal Hyperplasia Patient with Huge Space-occupying Adrenal Masses: a Case Report and Literature Review [PDF]
Zhongguo quanke yixue, 2023 Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease encompassing enzyme deficiencies in the process of adrenal steroidogenesis, which leads to adrenal cortex dysfunction.
RAO Yufeng, MENG Liheng, ZHOU Jia, LIANG Xinghuan, HUANG Zhenxing, QIN Yingfen
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