RT Journal Article SR Electronic T1 Antenatal diagnosis of steroid sulphatase deficiency: case report and literature survey. JF Journal of Clinical Pathology JO J Clin Pathol FD BMJ Publishing Group Ltd and Association of Clinical Pathologists SP 1236 OP 1239 DO 10.1136/jcp.35.11.1236 VO 35 IS 11 A1 Sherwood, R A A1 Rocks, B F YR 1982 UL http://jcp.bmj.com/content/35/11/1236.abstract AB Steroid sulphatase deficiency is a recently recognised genetically determined inborn error of metabolism. Originally identified as an enzyme disorder of the placenta (commonly termed placental sulphatase deficiency), it is now known that the progeny of affected pregnancies have a generalised steroid sulphatase deficiency and that the enzyme defect persists throughout life. The disorder is characterised clinically by markedly low maternal oestrogen excretion in the presence of normal fetal growth and development. The importance of antenatal diagnosis lies in the differentiation of this disorder from the more ominous fetal defects that result in low oestrogen concentrations. This paper summarises the relevant literature and describes a case in which biochemical tests were used for the antenatal diagnosis of steroid sulphatase deficiency. The pregnancy resulted in a healthy baby boy delivered vaginally after a spontaneous labour.