title: Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary marker analysis using GC/MS-SIM.
abstract: A simplified urinary marker analysis for diagnosis of congenital adrenal hyperplasia (CAH) and 5alpha-reductase deficiency in infancy by GC/MS-SIM is introduced. The analysis was performed in 161 patients aged 3-90 days, 99 females and 62 males. CAH due to 21-hydroxylase deficiency was diagnosed in 61 patients (42 females and 19 males; in 10 cases simple virilizing form and in 51 patients salt-wasting form) and CAH induced by 3beta-hydroxysteroid dehydrogenase deficiency without salt loss in 1 female patient. In 2 full-term newborns and 6 preterm infants, a false-positive diagnosis of CAH, which had been based on serum steroid evaluation, was made. In these cases, increased excretion of fetal adrenal zone steroids was confirmed as a possible source of false-positive serum 11-deoxycortisol and 17alpha-hydroxyprogesterone values. Lack of fetal adrenal zone steroid metabolites in 2 male newborns with salt loss symptoms led to the diagnosis of adrenal insufficiency due to X-linked adrenal hypoplasia and adrenal hemorrhage. A single analysis of urinary CAH markers by the very sensitive and selective GC/MS-SIM method can replace numerous assays of various steroids that must be carried out for positive diagnosis of abnormal steroidogenesis in infancy.
authors.affiliation: Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: E M
authors.initials: EM
authors.lastname: Małunowicz
authors.forename: Z
authors.initials: Z
authors.lastname: Mitkowska
authors.forename: K
authors.initials: K
authors.lastname: Bal
authors.forename: T
authors.initials: T
authors.lastname: Nizankowska-Błaz
authors.forename: E
authors.initials: E
authors.lastname: Moszczyńska
authors.forename: Z
authors.initials: Z
authors.lastname: Iwanicka
authors.forename: T E
authors.initials: TE
authors.lastname: Romer
mesh_terms: D000305:Adrenal Cortex Hormones / Q000172:deficiency; D000307:Adrenal Gland Diseases / Q000151:congenital / Q000175:diagnosis; D015415:Biomarkers / Q000652:urine; D004798:Enzymes / Q000172:deficiency*; D005189:False Positive Reactions; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000652:urine*; D013256:Steroids / Q000096:biosynthesis*
chemical_list: D000305:Adrenal Cortex Hormones; D015415:Biomarkers; D004798:Enzymes; D013256:Steroids