Low Urinary Oestriol Excretion During Pregnancy Associated With Placental Sulphatase Deficiency or Congenital Adrenal Hypoplasia

Summary The clinical details and outcome of eight pregnancies associated with very low oestriol excretion are reported. Three cases were associated with congenital adrenal hypoplasia which was confirmed at autopsy. In the remaining five cases the infants showed no clinical evidence of adrenal insufficiency, and the two placentae which were examined from these pregnancies were found to be deficient in placental sulphatase activity. It is likely that in all five cases placental sulphatase deficiency was present. To date all the reported cases of placental sulphatase deficiency have been with male fetuses and the condition appears to be sex linked.