Results 281 to 290 of about 75,592 (343)
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American Journal of Physiology. Endocrinology and Metabolism, 2019
21-hydroxylase deficiency (21OHD) is a rare genetic disorder in which salt-wasting syndrome occurs in 75% of cases, due to inability to synthesize cortisol and aldosterone. Recent mass spectrometry progress allowed identification of 21-deoxysteroids, i.e
Simon Travers +6 more
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21-hydroxylase deficiency (21OHD) is a rare genetic disorder in which salt-wasting syndrome occurs in 75% of cases, due to inability to synthesize cortisol and aldosterone. Recent mass spectrometry progress allowed identification of 21-deoxysteroids, i.e
Simon Travers +6 more
semanticscholar +1 more source
Molecular pathology of 21‐hydroxylase deficiency
Journal of Inherited Metabolic Disease, 1994SummarySteroid 21‐hydroxylase deficiency is a recessively inherited disorder of adrenal steroidogenesis. Different clinical variants map to a single geneCYP21B, which maps within the HLA complex and is located about 30 kb proximal to a very closely related 21‐hydroxylase pseudogene,CYP21A.
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Simple Virilizing 21-Hydroxylase Deficiency
2021Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of cortisol biosynthesis in the adrenal cortex. 21-Hydroxylase deficiency (21-OHD) is the most common form of CAH. 21-OHD is further divided into classical and non-classical forms. Nearly 25% of classical CAH patients have the simple virilizing type of CAH (SV-CAH).
Dóra Török, Judit Tőke
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21-hydroxylase deficiency congenital adrenal hyperplasia
The Journal of Steroid Biochemistry and Molecular Biology, 1994Congenital adrenal hyperplasia (CAH) results from an enzymatic block at any stage in the synthesis of cortisol. All enzyme defects causing CAH are autosomal recessive traits. It is a relatively common disease, occurring in 1 in 5000 to 1 in 15,000 births in most populations.
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Current Opinion in Endocrinology, Diabetes & Obesity, 2018
Purpose of review Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated.
P. White
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Purpose of review Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated.
P. White
semanticscholar +1 more source
21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
Neonatal Network, 2010CONONGENITAL ADRENAL hyperplasia (CAH) is an inborn error of metabolism that can produce life-threatening disease in the first one to three weeks of life, unless properly diagnosed and managed. This autosomal recessive disease results in insufficient biosynthesis of cortisol due to an enzyme defect in the adrenal gland. CAH due to 21-hydroxylase (21-OH)
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CYP21A2 intronic variants causing 21-hydroxylase deficiency
Metabolism, 2017Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene.
Concolino, P +5 more
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Molecular Genetics of 21- Hydroxylase Deficiency
2010More than 95% of all cases of congenital adrenal hyperplasia are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. The severity of the clinical symptoms varies according to the level of residual 21-hydroxylase activity. The CYP21A2 gene is located in the HLA class III region, as a component of so called RCCX modules
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Adult-onset familial adrenal 21-hydroxylase deficiency
The American Journal of Medicine, 1980Two sisters (28 and 30 years) were investigated for primary infertility and milk hirsutism. Both had normal puberty, were having regular menses and had normal female sexual characteristics. Studies revealed elevated urinary 17-ketosteroid levels (15.8, 18.8 mg/24 hours) and increased serum levels of 17-OH-progesterone (2,756, 1,121 ng/dl), 21 ...
J, Blankstein +4 more
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Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia
Endocrinology and Metabolism Clinics of North America, 2009Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency.
Saroj, Nimkarn +2 more
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