Results 31 to 40 of about 3,461 (195)
JCRPE, 2022 INTRODUCTION: Standard dose synacthen stimulation test (SDSST) is a gold standard screening test for evaluating adrenal gland function. Despite studies using SDSST to identify heterozygosity in CYP21A2, the reliability of the test for this purpose is ...
Seher Polat, Yusuf Kemal Arslan
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JCRPE, 2022 INTRODUCTION: Objective: Since there is no gold standard laboratory variable for adjustment of treatment in congenital adrenal hyperplasia (CAH), the aim was to assess the use of a 4-hour profile of serum 17-hydroxyprogesterone (17-OHP) to determine the ...
Özge Besci +6 more
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MethodsX, 2022 Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes, out of which mutations in the CYP21A2 gene resulting in 21 hydroxylase deficiency, contribute ...
Lavanya Ravichandran +6 more
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Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts [PDF]
, 2022 Background: Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease.
Michaelides, M +11 more
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Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels. [PDF]
PLoS ONE, 2014 Systematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels.The relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were ...
Márton Doleschall +13 more
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Steroid 21-hydroxylase gene variants and late-life depression
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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Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Frontiers in Endocrinology, 2022 Substantial research has been performed during the last decades on the clinical and genetic variability of congenital adrenal hyperplasia (CAH) and its most common form, 21-hydroxylase deficiency (21OHD).
Mirjana Kocova +3 more
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Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid.
Ja Hye Kim +3 more
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Indian Pediatrics Case Reports, 2022 Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme.
Sudhisha Dubey +3 more
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DataSheet1_Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.docx
, 2022 CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases.
Maria Lucia Rosa Rossetti (8744670) +4 more
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