21-hydroxylase deficiency


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21-hydroxylase deficiency

one form of congenital adrenal hyperplasia, with variable presentations, including severe or simple virilizing, salt-wasting, or nonclassic types.

21-hy·drox·y·lase de·fi·cien·cy

(hī-drok'si-lās dĕ-fish'ĕn-sē)
One form of congenital adrenal hyperplasia, with variable presentations, including simple virilizing, salt-wasting, and nonclassic types.
References in periodicals archive ?
CAH due to salt-wasting 21-hydroxylase deficiency (SW21-OHD) is the most common cause of hyponatremia and hyperkalemia in neonates.
Immunofluorometric techniques are commonly employed in screening for congenital hypothyroidism (TSH) and 21-hydroxylase deficiency (17-hydroxyprogesterone), as well as cystic fibrosis (immunoreactive trypsinogen, or IRT).
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.
3,5) These associated adrenal pathologic conditions include adrenocortical hyperplasia, (3) adrenocortical adenomas, (3,5) adrenocortical carcinomas, (5) and endocrinologic dysfunctions, including Addison disease, (4) Conn syndrome, (5) 21-hydroxylase deficiency, (3) 17-hydroxylase deficiency, (6) and ectopic corticotropin production.
The most common form is 21-hydroxylase deficiency, which is inherited in severe or mild forms.
I suggest that preparing the PCR products with a full CYP21A2 gene containing the downstream sequence of the TNXB gene (5) can faultlessly and accurately detect the molecular defect in CYP21A2 gene of the RCCX module that causes the 21-hydroxylase deficiency in CAH.
Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/tetrahydroxycortisone ratio and 11[beta]-hydroxyandrosterone.
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
Depending on the severity of the mutation, 21-hydroxylase deficiency ultimately leads to variable degrees of glucocorticoid and mineralocorticoid deficiency due to the inability to produce cortisol and aldosterone, respectively (Fig.