title: The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens.
abstract: Definitive neonatal diagnosis of congenital adrenal hyperplasia (CAH) is frequently complicated by normal 17-hydroxyprogesterone levels in 21-hydroxylase-deficient patients, residual maternal steroids, and other interfering substances in neonatal blood. In an effort to improve the diagnosis, we developed a gas chromatography/mass spectrometry method for simultaneous measurement of 15 urinary steroid metabolites as early as the first day of life. Furthermore, we developed 11 precursor/product ratios that diagnose and clearly differentiate the four enzymatic deficiencies that cause CAH. Random urine samples from 31 neonatal 21-hydroxylase-deficient patients and 59 age-matched normal newborns were used in the development. Additionally, samples from two 11 beta-hydroxylase-deficient patients and one patient each for 17 alpha-hydroxylase and 3 beta-hydroxysteroid dehydrogenase deficiencies were used. The throughput for one bench-top gas chromatography/mass spectrometry instrument is 20 samples per day. Thus, this method affords an accurate, rapid, noninvasive means for the differential diagnosis of CAH in the newborn period without the need for invasive testing and ACTH stimulation.
authors.affiliation: Quest Diagnostics' Nichols Institute, San Juan Capistrano, California 92690, USA.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Caulfield
authors.forename: Thomas
authors.initials: T
authors.lastname: Lynn
authors.forename: Michael E
authors.initials: ME
authors.lastname: Gottschalk
authors.forename: Kenneth L
authors.initials: KL
authors.lastname: Jones
authors.forename: Norman F
authors.initials: NF
authors.lastname: Taylor
authors.forename: Ewa M
authors.initials: EM
authors.lastname: Malunowicz
authors.forename: Cedric H L
authors.initials: CH
authors.lastname: Shackleton
authors.forename: Richard E
authors.initials: RE
authors.lastname: Reitz
authors.forename: Delbert A
authors.initials: DA
authors.lastname: Fisher
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000032:analysis / Q000652:urine; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000652:urine*; D003937:Diagnosis, Differential; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening / Q000379:methods
chemical_list: D019326:17-alpha-Hydroxyprogesterone; D015096:3-Hydroxysteroid Dehydrogenases