DEFINITIVE DIAGNOSIS OF ENZYMATIC DEFICIENCIES OF STEROIDOGENESIS IN AT-RISK NEWBORNS AND INFANTS BY URINARY MARKER ANALYSIS USING GC MS-SIM/

A simplified urinary marker analysis for diagnosis of congenital adren al hyperplasia (CAH) and 5 alpha-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 deficie ncy 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 3 beta-hydroxysteroid dehydrogenase deficiency without salt loss in 1 female patient. In 2 full-term newborns and 6 preterm infan ts, a false-positive diagnosis of CAH, which had been based on serum s teroid evaluation, was made. In these cases, increased excretion of fe tal adrenal zone steroids was confirmed as a possible source of false- positive serum 11-deoxycortisol and 17 alpha-hydroxyprogesterone value s. Lack of fetal adrenal zone steroid metabolites in 2 male newborns w ith salt loss symptoms led to the diagnosis of adrenal insufficiency d ue to X-linked adrenal hypoplasia and adrenal hemorrhage. A single ana lysis 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 i nfancy.