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Moderate 21-hydroxylase deficiency is referred to as simple virilizing CAH: Typically is recognized as causing virilization of prepubertal children. Cortisol is reduced, but aldosterone is not. Still milder forms of 21-hydroxylase deficiency are referred to as nonclassical CAH: Can cause androgen effects and infertility in adolescent and adult ...
Classic 21-hydroxylase deficiency typically causes 17α-hydroxyprogesterone blood levels >242 nmol/L. [medical citation needed] (For comparison, a full-term infant at three days of age should have <3 nmol/L. Many neonatal screening programs have specific reference ranges by weight and gestational age because high levels may be seen in premature ...
The condition of 21-hydroxylase deficiency is screened by measuring serum levels of 17α-hydroxyprogesterone (17-OHP) in the morning and between day 3 and 5 of the menstrual cycle (for females) to reduce the possibility of false positive results. [11] 17-OHP is used as a marker of the 21-hydroxylase enzyme activity since the 1980s. [51]
Genetic variants in the CYP21A2 gene cause a disturbance in the development of the enzyme, leading to congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Gene conversion events involving the functional gene and the pseudogene account for many cases of steroid 21-hydroxylase deficiency. [64] CAH is an autosomal recessive ...
21-deoxycortisol is a marker of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, [2] [1] [3] even in mild (non-classic) cases. [4] [5] It can be also used for newborn screening. [6] The deficiency of the 21-hydroxylase enzyme leads to excess of 17α-hydroxyprogesterone, [7] [8] a 21-carbon (C 21) steroid.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
17α-hydroxylase deficiency; 17,20 lyase deficiency; 17β-hydroxysteroid dehydrogenase deficiency; 5α-reductase deficiency; Androgen excess in 46,XX individuals: 21-hydroxylase deficiency; 3β-hydroxysteroid dehydrogenase 2 deficiency; Cytochrome P450 oxidoreductase deficiency (disorder in mother causes 46,XX fetal virilization) 11β ...
Depending on the type of adrenal insufficiency, there are many possible causes and therefore many different avenues of testing (see Causes above). For primary adrenal insufficiency, the most common cause is autoimmune adrenalitis (Addison's disease); therefore, 21-hydroxylase autoantibodies should be checked. [2]