11-Deoxycortisol

What the laboratory says this test is for

This panel may be used for differential diagnosis of congenital adrenal hyperplasia (CAH) and aldosterone synthase deficiency. In addition to the analytes included in this panel (17-hydroxyprogesterone, 11-deoxycortisol, 18-hydroxycorticosterone, aldosterone), other tests may be required to establish a diagnosis.CAH is a group of autosomal recessive diseases characterized by deficiencies of enzymes in steroid hormone production. These deficiencies cause imbalances of steroid intermediates and hormones. Clinical manifestations of CAH vary and depend upon the type of defect [1,2]. When symptoms and signs suggest aldosterone deficiency, this panel may be used to assist in diagnosing different types of CAH as well as aldosterone synthase deficiency, an inherited disorder caused by disruption of the final steps of aldosterone biosynthesis [3].17-hydroxyprogesterone levels are elevated in patients with 21-hydroxylase deficiency (the cause of 95% of CAH). 11-beta-hydroxylase and P450 oxidoreductase deficiency can also result in elevated 17-hydroxyprogesterone levels, whereas other types of CAH can result in decreased 17-hydroxyprogesterone levels [1,2].11-deoxycortisol levels are elevated in patients with 11-beta-hydroxylase deficiency and decreased in patients with P450 cholesterol side-chain cleavage enzyme deficiency [2].18-hydroxycorticosterone is markedly elevated in patients with corticosterone methyloxidase (CMO) deficiency type II and mildly decreased in patients with CMO deficiency type I [3].Aldosterone levels are decreased in patients with most types of CAH and CMO deficiency type II and undetectable in patients with CMO deficiency type I [3].Other tests and panels are available to help differentiate among different types of CAH and disorders with similar clinical manifestations.The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Speiser PW, et al. J Clin Endocrinol Metab. 2018;103(11):4043-4088.2. El-Maouche D, et al. Lancet. 2017;390(10108):2194-22103. White PC. Mol Cell Endocrinol. 2004;217(1-2):81-87.

What the laboratory says this test is for

Useful for diagnosis and differential diagnosis of congenital adrenal hyperplasia (CAH): similar to CAH Panel 6B Comprehensive Screen, but without deoxycorticosterone in order to decrease specimen requirement and allow faster turn around time.

What the laboratory says this test is for

This panel identifies all major adrenal steroid hormones and facilitates the diagnosis of the four enzymatic defects associated with congenital adrenal hyperplasia (CAH). All steroids are determined in a single assay by LCMSMS using as little as 0.1 mL serum.

What the laboratory says this test is for

This panel is important in the differential diagnosis of PCOS vs. non-classical CAH in women with oligomenorrhea/amenorrhea and signs of androgen excess.

What the laboratory says this test is for

11-Deoxycortisol (Compound S) is useful in diagnosing patients with 11-beta-hydroxylase deficiency (second leading cause of congenital adrenal hyperplasia) and primary (adrenal failure) or secondary (hypothalamic-pituitary ACTH deficiency) adrenal insufficiency.

What the laboratory says this test is for

Deficiency of 21-Hydroxylase is the most frequent cause of congenital adrenal hyperplasia (accounting for ~95% of cases) and 11Beta-Hydroxylase is the second most frequent (~5% of cases). Deficiencies of these two enzymes result in the accumulation of distinct steroid precursors.

What the laboratory says this test is for

This panel is useful for the diagnosis/management of patients with the most common forms (21-hydroxylase or 11-hydroxylase deficiency) of congenital adrenal hyperplasia.