Hypertensive congenital adrenal enzymatic defects detected by high-performance liquid chromatography of corticosteroids.
The simultaneous measurement of the adrenal deoxycorticosterone (DOC), 18-OH-DOC, corticosterone (B), 18-OH-B, 11-deoxycortisol (S) and cortisol (F) present in human plasma in cases of adrenal dysfunction was accomplished using a high-performance liquid chromatographic (HPLC) system with a UV detector and with a radioimmunoassay (RIA). After a solid-phase extraction, plasma samples were separated by HPLC using a gradient of water-acetonitrile-ethanol on a radial compressed reversed-phase column. In a 70-min cycle, a complete separation of adrenal steroids was accomplished. The UV detector allowed direct measurement of F in each plasma sample while in selected cases B and S were directly determined. It was therefore possible quickly to identify patients with hypertensive congenital adrenal enzymatic defects with this method: the 17-alpha-hydroxylase deficiency characterized by the absence of measurable levels of F with an evident peak corresponding to B and the 11-beta-hydroxylase deficiency in which high levels of S without F are detected. The RIA of DOC, B, 18-OH-DOC and 18-OH-B complete the characterization of the adrenal defect. Therefore, with this HPLC method it is possible to recognize the major hypertensive adrenal enzymatic deficiencies such as the defect of 17-alpha-hydroxylase or 11-beta-hydroxylase. With "RIA" detectors an almost complete spectrum of adrenal steroid secretion can be obtained.
Carpenè
G
G
Institute of Semeiotica Medica, University of Padova, Italy.
Vettoretti
A
A
Pedini
F
F
Rocco
S
S
Mantero
F
F
Opocher
G
G
D000305:Adrenal Cortex Hormones / Q000097:blood*; D000311:Adrenal Glands / Q000201:enzymology*; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006801:Humans; D006973:Hypertension / Q000097:blood* / Q000151:congenital; D008297:Male; D011863:Radioimmunoassay
D000305:Adrenal Cortex Hormones