Em. Malunowicz et al., DEFINITIVE DIAGNOSIS OF ENZYMATIC DEFICIENCIES OF STEROIDOGENESIS IN AT-RISK NEWBORNS AND INFANTS BY URINARY MARKER ANALYSIS USING GC MS-SIM/, Hormone research, 48(6), 1997, pp. 243-251
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.