Abstract
Hormonal measurements in maternal urine and amniotic fluid (AF) throughout pregnancy and/or delivery correctly predicted the postnatal diagnosis of 11β-CAH in 7 fetuses at risk. In the 4 affected ones, maternal urinary excretion of tetrahydro-11-deoxycortisol (THS) was increased by the first trimester (280-2200 μg/day)- before amniocentesis was feaseable, increased to peak levels (518-3400 μg/day) by the third one, but suppressed with dexamethasone. Urinary THS was low after delivery in these mothers, in normal pregnancies and in parents of affected individuals. However, the 3 heterozygous pregnant mothers who carried healthy fetuses excreted 15-260 μg/day of THS. AF concentrations of THS, 11-deoxycortisol (11-DF) and Δ4-androstenedione were markedly elevated in prgenancies with affected fetuses, but normal in healthy ones. Although the AF levels of tetrahydrocortisol (THF) and tetrahydrocortisone (THE) were always normal, the AF THS/THF + THE ratio (which remained constant during gestation in 150 normal women 0.63 ± 0.34 was significantly elevated in all pregnancies with affected fetuses (2.8-4.4) and normal in non-affected ones. Maternal concentrations of serum 11-DF and Δ4-androstenedione, determined sequentially throughout pregnancy, were variable and did not contribute to prenatal diagnosis of the disorder. Affected babies were born pigmented, 2 were big, and the female baby was severely virilized. Two males respectively developed severe neonatal hypertension and seizures. Although serum 11-DF and Δ4-androstenedione were already elevated during the first week of life, urinary excretion of THS was low in the neonatal period. Prenatal diagnosis of 11β-CAH based on hormonal parameters is reliable when sequential maternal urine with combined AF determinations are performed. Because of the clinical severity of this disorder elective abortion might be the final goal, even though prenatal treatment may be attempted.
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Roster, A., Leiberman, E., Hochberg, Z. et al. IIβ-HYDROXYLASE DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA (IIβ-CAH): UPDATE OF PRENATAL DIAGNOSIS. Pediatr Res 23, 108 (1988). https://doi.org/10.1203/00006450-198801000-00044
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DOI: https://doi.org/10.1203/00006450-198801000-00044