Two cases of placental sulphatase deficiency with unusual endocrine features

Two cases of placental sulphatase deficiency are described both of which showed typical clinical features, associated with very low urinary and serum oestrogens. In the one case that reached term there was a spontaneous rise in serum oestradiol levels (from 16 to 44 nmol/l) after 38 weeks, although no oestradiol rise occurred after DHEAS loading. She later achieved a vaginal delivery. Although no steroid sulphatase activity could be detected in the placenta of case 2, there was a small transient rise in serum oestradiol (from 15.4 to 32.7 nmol/l) after maternal DHEAS loading. However, the absolute levels reached were very low compared to the response seen in normal pregnancies. The spontaneous rise in basal oestradiol levels between 38 and 41 weeks and the transient rise following DHEAS loading have not been previously reported for patients with placental sulphatase deficiency. Umbilical cord blood levels of several steroids in case 2 showed some similarities to previous case reports. Levels of DHEA, 16 alpha OH DHEA, 17OH pregnenolone and cortisol were significantly lower than control values. DHEAS, 16 alpha OH DHEAS, 17OH progesterone and androstenedione were within the normal range.