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Extraadrenal Steroid 21-Hydroxylase Activity in a Woman with Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency* [PDF]

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).
R. J. Worley, Paul C. MacDonald, M. L. Casey, C. A. Winkel, James D. Madden   +4 more
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Molecular Cloning of Steroid 21-Hydroxylase

Endocrine Research, 1984
Congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency is HLA-linked. The haplotype HLA-(A3);Bw47;DR7 is strongly associated with 21-OH deficiency and always carries a null allele at the complement C4A (Rodgers) locus. It seemed likely that this haplotype carries a deletion encompassing both the C4A and 21-OH loci. We hypothesized that
Bo Dupont, Bo Dupont, Maria I. New, Maria I. New, Perrin C. White, Perrin C. White   +5 more
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Mutations in Steroid 21-Hydroxylase (CYP21)

Human Mutation, 1994
The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21-hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21-hydroxylase (P450c21) is a microsomal enzyme expressed in the adrenal gland that catalyzes ...
María Teresa Tusié-Luna, Perrin C. White, Phyllis W. Speiser, Maria I. New   +3 more
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Regulation of 21-Hydroxylase activity by steroids

Endocrine Research, 1995
In 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 ...
Yves Tremblay, Sylvie Perron, Patricia H. Provencher, Alain Bélanger, Michel Vallée   +4 more
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Steroid 21-Hydroxylase Deficiency in Mice*

Endocrinology, 1988
The enzyme steroid 21-hydroxylase (21-OHase) plays a key role in adrenal steroidogenesis. Defects in this enzyme are responsible for one of the most common inborn errors of metabolism in humans. Duplicated genes for the enzyme are located in the class III region of the major histocompatibility complex (MHC), HLA.
Hideo Gotoh, Kazuo Moriwaki, Jun-ichi Hata, Toshihiko Shiroishi, Tomoko Sagai   +4 more
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Genetics of steroid 21-hydroxylase deficiency

Trends in Genetics, 1985
Abstract 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 ...
Maria I. New, Phyllis W. Speiser
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Steroid 21-hydroxylase expression in cultured rat astrocytes [PDF]

Brain Research Bulletin, 2003
Over 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.
Thomas G. Watson, Michael D. Lovelace, Garth L. Stephenson   +2 more
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A new ELISA for autoantibodies to steroid 21-hydroxylase

Clinical Chemistry and Laboratory Medicine (CCLM), 2017
Abstract Background: A new ELISA for autoantibodies to steroid 21-hydroxylase (21-OH Ab) is described. Methods: In the assay test sample autoantibodies form a bridge between 21-OH coated onto the plate well and liquid phase 21-OH ...
Maria Del Pilar Larosa, Nora Steinmaus, Shu Chen, Miriam Dalla Costa, Liang Guo, Bernard Rees Smith, Silvia Garelli, Artur Bossowski, Jadwiga Furmaniak, Hannah Macrae, Corrado Betterle, Stefano Masiero   +11 more
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Molecular pathology of steroid 21-hydroxylase deficiency

The Journal of Steroid Biochemistry and Molecular Biology, 1991
The 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.
Tom Strachan, Perrin C. White
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