Results 141 to 150 of about 19,474 (186)
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Regulation of 21-Hydroxylase activity by steroids
Endocrine Research, 1995In this study, we investigated the effect of steroids on guinea pig and bovine adrenal steroidogenesis, especially 21-hydroxylase activity. Analysis of guinea pig adrenal steroids indicated the presence of high concentrations of androstenedione in the guinea pig adrenal; furthermore, in vitro studies using guinea pig adrenal cortex cells in primary ...
A, Bélanger +4 more
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Molecular pathology of steroid 21-hydroxylase deficiency
The Journal of Steroid Biochemistry and Molecular Biology, 1991The molecular pathology of steroid 21-hydroxylase deficiency is attributable to unequal crossover-mediated gene deletion or to large- or small-scale replacement of the functional CYP21B gene sequence by a copy of the analogous CYP21A pseudogene sequence.
T, Strachan, P C, White
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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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Genetics of Adrenal Steroid 21-Hydroxylase Deficiency*
Endocrine Reviews, 1986Impairment of 21-hydroxylation is the most common enzymatic deficiency resulting in the syndrome of CAH, which may present either in the classical form in infants or in the nonclassical form in older individuals. Variable signs and symptoms of androgen excess are common to both types of the disorder, which are transmitted as autosomal recessive traits ...
M I, New, P W, Speiser
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Genetics of steroid 21-hydroxylase deficiency
Trends in Genetics, 1985Abstract Classical and non-classical adrenal hyperplasia due to steroid 21-hydroxylase deficiency (210HD) are HLA-linked, autosomal recessive disorders characterized by a variable degree of hyperandrogenism and cortisol deficiency. Direct screening of newborns has placed the incidence of the classical disease at 1 : 5000 to 1 : 15 000, whereas the ...
Phyllis W. Speiser, Maria I. New
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Steroid 21-hydroxylase expression in cultured rat astrocytes
Brain Research Bulletin, 2003Over the past decade or so it has become widely recognised that the brain is a significant steroidogenic organ. Many publications have highlighted the ability of the brain to synthesise and interconvert a large number of steroid products including cholesterol, progesterone and testosterone.
Michael, Lovelace +2 more
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Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*
The Journal of Clinical Endocrinology & Metabolism, 1983Hormonal reference data, in the form of nomograms relating baseline and stimulated levels of adrenal hormones, provide a means of genotyping steroid 21-hydroxylase (21-OH) deficiency in congenital adrenal hyperplasia. Data from both 360- and 60-min ACTH stimulation tests are given.
M I, New +10 more
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Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
The Journal of Steroid Biochemistry and Molecular Biology, 2017Congenital adrenal hyperplasia (CAH) refers to a group of inherited genetic disorders involving deficiencies in enzymes that convert cholesterol to cortisol within the adrenal cortex. There are five key enzymes involved in the production of cortisol. Of these key enzymes, deficiency of 21-hydroxylase is the most commonly defective enzyme leading to CAH
Alan A, Parsa, Maria I, New
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High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency
Obstetrical & Gynecological Survey, 1986Nonclassical steroid 21-hydroxylase deficiency is an autosomal recessive disorder that is defined by clinical and hormonal criteria that distinguishes it from the classical 21-hydroxylase deficiency. No estimates of the gene frequency of nonclassical 21-hydroxylase deficiency, also called attenuated, late-onset, acquired, and cryptic adrenal ...
SPEISER PW +5 more
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The Journal of Clinical Endocrinology & Metabolism, 1983
The 21-hydroxylation of plasma progesterone (P) has been demonstrated in pregnant, nonpregnant, and adrenalectomized women and in men. The fractional conversion of plasma progesterone to deoxycorticosterone (DOC), [rho]P-DOC BU, among those subjects was 0.009 +/- 0.001 (mean +/- SEM, n = 32).
C A, Winkel +4 more
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The 21-hydroxylation of plasma progesterone (P) has been demonstrated in pregnant, nonpregnant, and adrenalectomized women and in men. The fractional conversion of plasma progesterone to deoxycorticosterone (DOC), [rho]P-DOC BU, among those subjects was 0.009 +/- 0.001 (mean +/- SEM, n = 32).
C A, Winkel +4 more
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