PLACENTAL SULPHATASE DEFICIENCY: ANTEPARTUM DIFFERENTIAL DIAGNOSIS FROM FOETAL ADRENAL HYPOPLASIA

SUMMARY Pregnancies complicated by placental sulphatase deficiency and with fetal adrenal hypoplasia present similar clinical features. Antepartum differential diagnosis is required to identify those newborn infants likely to be at risk from adrenal insufficiency. For this purpose, the urinary excretion, near term, of oestrogens and 17‐oxogenic steroids in six pregnancies with placental sulphatase deficiency was compared with the excretion of these groups of steroids by twenty‐one women with an anencephalic foetus. This group served as a model for congenital adrenal hypoplasia. The mean excretion of oestrogens in placental sulphatase deficiency (7.4 μmo1/24 h, mean ± SD, seventeen urines) was significantly lower (P< 0.001) than that of women with an anencephalic foetus (17 ± 10 μmo1/24 h, twenty‐nine urines). In contrast, mean 17‐oxogenic steroid excretion was higher ( P < 0.001) in pregnancies complicated by sulphatase deficiency (46 ± 12 μmo1/24 h, seventeen urines) than in those complicated by anencephaly (26 ± 7 μmo1/24 h, twenty‐nine urines). All 24 h urine samples from women with placental sulphatase deficiency contained <11.5 μmol oestrogen and > 26 μmol 17‐oxogenic steroids, whereas all results from women with an anencephalic foetus fell outside both these limits. With these simple urinary steroid assays, it appears possible to distinguish, before delivery, between pregnancies with placental sulphatase deficiency and those with anencephaly, and, by implication, those with congenital adrenal hypoplasia.