21-hydroxylase deficiency

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 ?
The Phase 2 clinical trial was a multi-center, single-blind, escalating dose proof-of-concept study that assessed the efficacy and safety of orally-administered ATR-101 in addition to corticosteroids in patients with classic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Introduction: 21-hydroxylase deficiency constitutes most of salt-depleting congenital adrenal hyperplasia (CAH) cases in newborns.
The most common cause of CAH is 21-hydroxylase deficiency (21OHD) where patients with the classic form present with or without salt loss (salt wasting or simple virilizing forms, resp.
To the Editor: Nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency (21-OHD) is one of the most common autosomal recessive disorders.
Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study.
Diagnosis: 46 XX-CAH 21-hydroxylase deficiency (Simple virilising variant) with ambiguous genitalia with proportionate short stature.
CAH due to salt-wasting 21-hydroxylase deficiency (SW21-OHD) is the most common cause of hyponatremia and hyperkalemia in neonates.
It is a recessively inherited disorder and has an average incidence of 1:5000, the most common of these is 21-hydroxylase deficiency that accounts for 95% of involved cases1.
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency.
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).