title: Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency.
abstract: A new chromatographic system for the steroid precursor separation and a sensitive radioimmunoassay system for the subsequent measurement of 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone has been developed. 18-Hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone were extracted with methylene chloride and separated from cross-reacting steroids by Sephadex LH-20 column chromatography. Anti-18-hydroxy-11-deoxycorticosterone and anti-18-hydroxycorticosterone antibodies raised in rabbits were used. The lower detection limit of the assay is 0.03 nmol/l and 0.128 nmol/l for 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone, respectively. Normal values for this assay in 128 healthy neonates and infants aged 0-5 months were established as a basis for the early hormonal diagnosis of aldosterone synthase deficiency types I and II. Its application for the diagnosis of aldosterone synthase deficiency is demonstrated in two patients with homozygous mutation/deletion in the encoding CYP11B2 gene.
authors.affiliation: Division of Paediatric Endocrinology, Department of Paediatrics, Christian-Albrechts-University Kiel, Schwanenweg 20, 24105 Kiel, Germany.
authors.forename: F G
authors.initials: FG
authors.lastname: Riepe
authors.forename: N
authors.initials: N
authors.lastname: Krone
authors.forename: M
authors.initials: M
authors.lastname: Peter
authors.forename: W G
authors.initials: WG
authors.lastname: Sippell
authors.forename: C-J
authors.initials: CJ
authors.lastname: Partsch
mesh_terms: D015069:18-Hydroxycorticosterone / Q000031:analogs & derivatives / Q000097:blood*; D015070:18-Hydroxydesoxycorticosterone; D000918:Antibody Specificity; D002853:Chromatography, Liquid; D003429:Cross Reactions; D019405:Cytochrome P-450 CYP11B2 / Q000037:antagonists & inhibitors* / Q000235:genetics; D004247:DNA / Q000302:isolation & purification; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D011863:Radioimmunoassay; D012015:Reference Standards; D012016:Reference Values; D015203:Reproducibility of Results
chemical_list: D015070:18-Hydroxydesoxycorticosterone; D015069:18-Hydroxycorticosterone; D004247:DNA; D019405:Cytochrome P-450 CYP11B2