Radioimmunoassay of plasma 21-deoxycortisol

Analysis of 21‐deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring

“…In contrast, clearly different behaviour was observed for heterozygous carriers (numbers 1, 3 and 4, Table 1) in which the level of 21‐DF strongly increased (about 10–15 times) after ACTH stimulation. These results fully confirm the literature data obtained by using the radioimmunoassay technique 8–10,13,14…”

“…It is known that ACTH induces much higher 21‐DF plasma levels in heterozygous than in normal subjects 8–12. Several studies8–10,13–15 have demonstrated that 21‐DF is a more sensitive marker than 17‐OHP because it allows the detection of more than 90% of heterozygous carriers. Plasma levels of 21‐DF before and 60 min after ACTH stimulation is becoming a new approach for detection of heterozygous carriers of 21‐OHD.…”

“…The methods currently used for the detection of 21‐DF are radioimmunoassay (RIA)8–10,13,14 and solid‐phase time‐resolved fluoroimmunoassay (TR‐FIA) 16. In particular, the RIA technique leads to high sensitivity (0.6 pg/tube)14 but on the other hand it is labour intensive and sample loss can occur during the extraction and preparation procedures 10.…”

Simultaneous quantitation of seven endogenous C-21 adrenal steroids by liquid chromatography tandem mass spectrometry in human serum

“…Although 17-hydroxyprogesterone and 11-desoxycortisol are the most used markers to diagnose CAH defects, the use of other steroids from C21-steroid metabolic pathway is relatively unexplored, mainly due to the lack of practical methodologies. 21-Desoxycortisol has been described as a more sensitive marker than 17-hydroxyprogesterone for 21-hydroxylase deficiency detection and its determination after ACTH stimulation is becoming the new strategy for the identification of heterozygote carriers of an impaired 21-hydroxylase gene [27][28][29]. Increased 11-desoxycorticosterone levels may signal a mineralocorticoid excess in situations when aldosterone levels remain within the normal limits and it is a specific marker of the mineralocorticoid pathway [5,30].…”

Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-Deoxycortisol in Classic Congenital Adrenal Hyperplasia: Clinical and Hormonal Correlations and Identification of Patients with 11β-Hydroxylase Deficiency among a Large Group with Alleged 21-Hydroxylase Deficiency

“…Because 11␤-hydroxylation is confined to the adrenal cortex, in contrast to 21-hydroxylase, 21DF does not follow the same secretory pattern of 17OHP; its levels do not change with either puberty or the menstrual cycle (7,8,34). Thus, in the pubertal patient with 21OHD, 21DF may be useful for therapeutic decisions.…”