steroid 21-monooxygenase

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ster·oid 21-mon·o·ox·y·gen·ase

an enzyme catalyzing the reaction of a steroid, O2, and some reduced compound to produce water, the oxidized compound, and a 21-hydroxysteroid; a deficiency of this enzyme results in decreased cortisol synthesis, of which there are three types: salt-wasting, simple virilizing, and nonclassical.
References in periodicals archive ?
Congenital adrenal hyperplasia (CAH) [8] is caused by inherited defects in steroid biosynthesis, in particular 21-hydroxylase deficiency.
Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene.
How a patient homozygous for a 30-kb deletion of the C4-CYP21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
Total ion chromatograms of a sample from a healthy female patient and females with suspected 21-hydroxylase and 3b-hydroxysteroid dehydrogenase deficiencies are shown in Fig.
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
On the other hand, gross gene deletions of the ~30-kb genome, which leave behind the C4A and a single CYP21A-like gene, have been reported to occur in 20% of alleles in patients with CAH involving a 21-hydroxylase deficiency (12).
The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.
21-hydroxylase deficiency is seen in most CAH patients, while 11[beta]-hydroxylase deficiency is seen in only 5% of CAH patients.
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is rare, occurring approximately once in every 15 000 live births.
LISBON -- Women who receive long-term glucocorticoid treatment for congenital adrenal hyperplasia due to 21-hydroxylase deficiency are at risk for decreased bone mineral density, Jeremy A.