hydroxylase

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hydroxylase

[hī′dräk·sə‚lās]
(biochemistry)
Any of several enzymes that catalyze certain hydroxylation reactions involving atomic oxygen.
References in periodicals archive ?
CAH is caused by defects in the steroid synthesis pathway, primarily 21-hydroxylase deficiency.
We present the case of a female patient, 23 years of age, with a diagnosis of congenital adrenal hyperplasia (late-onset 21-hydroxylase defect) and Hashimoto thyroiditis, both conditions under treatment.
1), in which the authors describe a novel method to detect C4-CYP21 deletions inpatients with steroid 21-hydroxylase deficiency.
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.
The most common type of CAH is 21-hydroxylase deficiency, which is the result of sequence variations in the cytochrome P450, family 21, subfamily A, polypeptide 2 gene (CYP21A2 [5] also known as CYP21) located on chromosome 6.
The patients were followed in the endocrinology clinic and underwent ACTH stimulation testing to exclude 21-hydroxylase deficiency and primary adrenal dysfunction suspected in the presence of other autoimmune disorders (such as hypothyroidism or diabetes mellitus).
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder caused mainly by defects in the steroid 21-hydroxylase gene (CYP21).
The most common type of CAH is 21-hydroxylase deficiency (210HD), which is attributable to mutations in the gene CYP21 and a pseudogene, CYP21P, located on the short arm of chromosome 6.
4 nmol/L (300 ng/dL)] (3), whereas women with late-onset 21-hydroxylase deficiency have moderately increased testosterone [~4.
Nonclassical CAH results most commonly from a deficiency of 21-hydroxylase that leads to accumulation of 17-OHP, which is then shunted into androgen synthesis (4).
For instance, the company's steroid 21-hydroxylase antibody (21-0HAb) test kit may be useful as an aid in the diagnosis of autoimmune adrenal disease, whether expressed as autoimmune Addison's Disease or Addison's Disease as part of the more complex autoimmune polyglandular syndrome (APS), Type I or II.