PMID: 6958681Nov 1, 1982Paper

Antenatal diagnosis of steroid sulphatase deficiency: case report and literature survey

Journal of Clinical Pathology
R A Sherwood, B F Rocks

Abstract

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.

References

Jan 14, 1978·Lancet·D WebsterR Weiss
Feb 15, 1976·American Journal of Obstetrics and Gynecology·T Tabei, W L Heinrichs
Jul 1, 1976·The Journal of Clinical Endocrinology and Metabolism·R OsathanondhD Tulchinsky
Nov 15, 1976·American Journal of Obstetrics and Gynecology·G D BraunsteinM E Wade
Nov 1, 1979·The Australian & New Zealand Journal of Obstetrics & Gynaecology·G PhillipouR Sweet
Apr 1, 1978·European Journal of Obstetrics, Gynecology, and Reproductive Biology·D MangoE Menini
Aug 1, 1979·The Australian & New Zealand Journal of Obstetrics & Gynaecology·D J Grose
Jul 1, 1979·The Journal of Clinical Endocrinology and Metabolism·N F Taylor, C H Shackleton
Jul 1, 1979·Journal of Steroid Biochemistry·J T France
Oct 1, 1978·Archives of Disease in Childhood·G KoppeA C Jöbsis
Aug 1, 1977·Pediatric Research·L J ShapiroH Kihara
Jan 1, 1969·The Journal of Clinical Endocrinology and Metabolism·J T France, G C Liggins
Jan 1, 1973·The Journal of Clinical Endocrinology and Metabolism·J T FranceG C Liggins
May 1, 1972·Obstetrical & Gynecological Survey·N A Beischer, J B Brown
Sep 1, 1972·The Journal of Obstetrics and Gynaecology of the British Commonwealth·J R FliegnerJ B Brown
Jan 1, 1980·European Journal of Obstetrics, Gynecology, and Reproductive Biology·M BedinL Cedard
Jul 1, 1980·The British Journal of Dermatology·W P de GrootH W de Bruijn
May 1, 1975·Annals of Clinical Biochemistry·C E WildeUNKNOWN Association of Clinical Biochemists

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