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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Growth characteristics of children with 21-hydroxylase deficiency and the value of steroid hormones in height assessment [PDF]
BMC PediatricsBackground Impaired height is a common complication of 21-hydroxylase deficiency (21OHD), yet sensitive monitoring indicators remain limited. This study aims to elucidate growth characteristics and identify effective monitoring parameters for 21OHD ...
Hemeng Chong +5 more
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Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency [PDF]
JCRPEAlthough the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta ...
Mehmet İsakoca +2 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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An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency [PDF]
The Journal of Molecular Diagnostics, 2001 Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), a group of inborn errors of adrenal steroid biosynthesis. 1 Approximately 1 in 14,000 newborns is affected with the classic form of the disease. A milder, late-onset or non-classic form that is clinically evident in approximately 1 in 1000 females also
Catherine E. Keegan, Anthony A. Killeen
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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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Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer [PDF]
Scientific ReportsEndogenous androgens are pivotal in the development and progression of prostate cancer (PC). We investigated nanoparticle formulations of curcumin and piperine in modulating steroidogenesis within PC cells.
Jibira Yakubu +5 more
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Autoantibodies against Cytochrome P450 Side-Chain Cleavage Enzyme in Dogs (Canis lupus familiaris) Affected with Hypoadrenocorticism (Addison's Disease). [PDF]
PLoS ONE, 2015 Canine hypoadrenocorticism likely arises from immune-mediated destruction of adrenocortical tissue, leading to glucocorticoid and mineralocorticoid deficiency.
Alisdair M Boag +5 more
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Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency. [PDF]
Journal of Medical Genetics, 1988 DNA was analysed from 33 patients with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. In each case Southern blots were prepared from a number of restriction enzyme digests and hybridised with probes for both the 21-hydroxylase and the adjacent fourth component of complement (C4).
G Rumsby +3 more
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