Results 251 to 260 of about 75,903 (304)
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2018
The steroid 21-hydroxylase (CYP21) enzyme is required for cortisol and aldosterone biosynthesis, and its deficiency is the most common cause of congenital adrenal hyperplasia. The disorder is characterised by a variable degree of renal salt-losing caused by aldosterone insufficiency and virilisation as a result of exposure to excess androgens produced ...
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The steroid 21-hydroxylase (CYP21) enzyme is required for cortisol and aldosterone biosynthesis, and its deficiency is the most common cause of congenital adrenal hyperplasia. The disorder is characterised by a variable degree of renal salt-losing caused by aldosterone insufficiency and virilisation as a result of exposure to excess androgens produced ...
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Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes
Acta Endocrinologica, 1992Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder with different clinical manifestations, that results from mutations in the P-450(c21) gene. Direct sequence analysis of P-4 50(c21) genes in a family demonstrates that patients with different clinical forms of congenital adrenal hyperplasia can have identical P-4 50(c21 ...
M, Bormann +4 more
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21 -Hydroxylase Deficiency in Female Hyperandrogenism
Obstetrical & Gynecological Survey, 198921-Hydroxylase-deficient late-onset adrenal hyperplasia (LOAH) appears to affect 1-6% of hyperandrogenic women. Screening and diagnostic criteria for LOAH have not been well established, as these patients are clinically indistinguishable from other hyperandrogenic women.
R, Azziz, H A, Zacur
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Hyperandrogenism and Manifesting Heterozygotes for 21-Hydroxylase Deficiency
Biochemical and Molecular Medicine, 1997Premature adrenarche and functional adolescent androgen excess are common disorders which may evolve into polycystic ovary syndrome (PCOS). In all three disorders, ACTH-stimulated 17-hydroxyprogesterone concentrations are often somewhat elevated. To determine the role of 21-hydroxylase (CYP21) gene mutations in these disorders, we performed molecular ...
S F, Witchel +3 more
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Immunological pattern in patients with 21-hydroxylase deficiency
Journal of Endocrinological Investigation, 1994The aim of this work was to perform an immunological study in six patients with 21 hydroxylase deficiency in mild form (M210HD) and in 2 patients with 21-hydroxylase deficiency in classical form (C210HD) and in their parents, in whom a previous HLA,C4,Bf typing demonstrated high prevalence of DR5 and phenotypic absence of fraction C4B of complement ...
F, Parlato +8 more
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ADRENAL STEROIDOGENESIS IN HETEROZYGOTES FOR 21‐HYDROXYLASE DEFICIENCY
Clinical Endocrinology, 1979SUMMARYAdrenal steroidogenesis has been studied in vivo in eight obligate heterozygotes (six men and two women) for 21‐hydroxylase deficiency and the results compared with twenty‐one normal subjects. Serum levels of nine steroids on the biosynthetic pathway (the Δ53β‐hydroxysteroids, pregnenolone (Pe), 17α‐hyd‐roxypregnenolone (17Pe ...
D F, Child, D E, Bu'lock, D C, Anderson
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Genetics of Steroid 21-Hydroxylase Deficiency
1987Publisher Summary Congenital adrenal hyperplasia because of steroid 21-hydroxylase (21-OHase) deficiency is one of the most common inborn errors of metabolism. The 21-OHase locus is closely linked to the HLA major histocompatibility complex, and 21-OHase deficiency alleles show characteristic associations with particular HLA antigens and with alleles
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21-Hydroxylase Deficiency: Screening and Incidence in Israel
Hormone Research, 1997Neonatal screening for congenital adrenal hyperplasia was introduced in 1977. However, even today only a few national screening programs exist and their cost effectiveness is still debatable. This study was conducted in order to evaluate the advisability of a national or regional screening program in Israel.From June 1987 until December 1992 we ...
J, Sack +3 more
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Prenatal diagnosis and treatment of 21-hydroxylase deficiency
The Journal of Steroid Biochemistry and Molecular Biology, 1993Prenatal diagnosis of 21-hydroxylase deficiency, the most common cause of congenital adrenal hyperplasia (CAH), has benefited from the advances in endocrinologic and molecular genetic studies. In 1976, prenatal diagnosis of the disease was first attempted by measuring 17-hydroxyprogesterone in the amniotic fluid in the second trimester of pregnancy ...
M G, Forest, M, David, Y, Morel
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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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