Results 151 to 160 of about 5,963 (192)

Steroid 11β- hydroxylase deficiency congenital adrenal hyperplasia

Trends in Endocrinology & Metabolism, 2008
Congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. It is associated with low renin hypertension, hypokalemia, hyperandrogenemia and genital ambiguity in affected females. Mutations in the CYP11B1 gene, causing 11beta-hydroxylase deficiency in
Saroj, Nimkarn, Maria I, New
openaire   +2 more sources

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 ...
A, Bélanger, Y, Tremblay, M, Vallée, P H, Provencher, S, Perron   +4 more
openaire   +2 more sources

Steroid 11β-Hydroxylase Deficiency

2001
Inherited defects in cortisol biosynthesis are collectively termed congenital adrenal hyperplasia [reviewed in (1)]. Steroid 21-hydroxylase deficiency is, by far, the most common of these defects; it is reviewed elsewhere in this volume. This chapter reviews a related disease, steroid 11β-hydroxylase deficiency [reviewed in greater detail in (2)].
openaire   +1 more source

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.
T, Strachan, P C, White
openaire   +2 more sources

Genetics of Steroid 21-Hydroxylase Deficiency

1987
Publisher 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
openaire   +2 more sources

Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Endocrinology and Metabolism Clinics of North America, 2009
Steroid 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, Karen, Lin-Su, Maria I, New   +2 more
openaire   +3 more sources

Genetics of Adrenal Steroid 21-Hydroxylase Deficiency*

Endocrine Reviews, 1986
Impairment 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
openaire   +2 more sources

Factors influencing steroid hydroxylases in liver microsomes

Advances in Enzyme Regulation, 1966
Abstract Liver microsomal enzymes oxidatively metabolize drugs, insecticides and steroids in the presence of TPNH and oxygen to compounds that are more polar than the substrate. Several factors listed below which alter the activity of the oxidative drug-metabolizing enzymes in liver microsomes, similarly alter the activity of liver microsomal enzymes
R, Kuntzman, R, Welch, A H, Conney
openaire   +2 more sources

Steroid 16α‐Hydroxylase from Human Fetal Liver; Inhibition by Steroids

Acta Obstetricia et Gynecologica Scandinavica, 1980
The 16α‐hydroxylase system in fetal liver which used dehydroepiandrosterone (DHA) or pregnenolone as substrate, was apparently inhibited by various endogenous and synthetic steroids: DHA, pregnenolone, their sulfates, androstenediol, androstenetriol, estrone, estradiol‐17β, ethynylestradiol and chlormadinone‐acetate.
Y, Sano, H, Shibusawa, N, Yoshida, K, Sekiba, S, Okinaga, K, Arai   +5 more
openaire   +2 more sources

Urinary steroid excretion in 17α-hydroxylase deficiency

Journal of Steroid Biochemistry, 1978
Abstract Urinary steroids from a patient with 17α-hydroxylase deficiency syndrome have been identified. The steroids were obtained by enzymatic hydrolysis of urine, Amberlite XAD-2 extraction and Sephadex LH-20 column chromatography. Following preparation of volatile derivatives, the steroids were separated and estimated by gas chromatography on open-
J W, Honour, J, Tourniaire, E G, Biglieri, C H, Shackleton   +3 more
openaire   +2 more sources