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 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.

Prenatal lead exposure and the pregnancy outcome. A case-control study in southern Poland.

In an attempt to test null hypothesis (Ho): that prenatal lead exposure does not increase the risk of prematurity and the delivery of SGA infants, a case-control study was performed in four hospitals of Southern Poland (Kraków, Rabka, Limanowa, Zakopane). Lead content was determined in maternal and cord blood as well as in head and pubic hair by the GF AAS (Perkin Elmer). A significant interregional variation of lead content in maternal blood was observed. Lead concentration in maternal and cord blood was significantly higher in the group of mothers of SGA newborns when compared to the controls. This was not the case with respect to the mothers of preterm infants. Also, the comparison of lead concentration in head and pubic hair revealed no statistically significant case-control differences. For a combined population of cases and controls, a significant gradient of lead concentration between maternal and cord blood was demonstrated. The correlation between lead content in different body compartments was observed. Conclusions. Different blood lead levels observed in mothers from four hospitals suggest different exposure. Higher lead concentration in maternal blood was associated with an increased risk of the delivery of SGA infant.