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. 1982 Nov;35(11):1236–1239. doi: 10.1136/jcp.35.11.1236

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

R A Sherwood, B F Rocks
PMCID: PMC497934  PMID: 6958681

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Beastall G. H., Kelly A. M., England P., Rao L. G., MacGregor M. W., Paterson M. L. Urinary oestrogen and plasma human placental lactogen as initial screening tests for a placental sulphatase deficiency. Scott Med J. 1976 Jul;21(3):106–108. doi: 10.1177/003693307602100303. [DOI] [PubMed] [Google Scholar]
  2. Bedin M., Alsat E., Tanguy G., Cedard L. Placental sulfatase deficiency: clinical and biochemical study of 16 cases. Eur J Obstet Gynecol Reprod Biol. 1980 Jan;10(1):21–34. doi: 10.1016/0028-2243(80)90033-7. [DOI] [PubMed] [Google Scholar]
  3. Beischer N. A., Brown J. B. Current status of estrogen assays in obstetrics and gynecology. 2: Estrogen assays in late pregnancy. Obstet Gynecol Surv. 1972 May;27(5):303–343. [PubMed] [Google Scholar]
  4. Beischer N. A., Brown J. B. Current status of estrogen assays in obstetrics and gynecology. 2: Estrogen assays in late pregnancy. Obstet Gynecol Surv. 1972 May;27(5):303–343. [PubMed] [Google Scholar]
  5. Braunstein G. D., Zeil F. H., Allen A., Van de Velde R., Wade M. E. Prenatal diagnosis of placental steroid sulfatase deficiency. Am J Obstet Gynecol. 1976 Nov 15;126(6):716–719. doi: 10.1016/0002-9378(76)90526-3. [DOI] [PubMed] [Google Scholar]
  6. Cedard L., Tchobrousky C., Guglielmina R., Mailhac M. Insuffisance oestrogenique paradoxale au cours d'une grossesse normale par défaut de sulfatase placentaire. Bull Fed Soc Gynecol Obstet Lang Fr. 1971 Jan-Mar;23(1):16–20. [PubMed] [Google Scholar]
  7. Fliegner J. R., Schindler I., Brown J. B. Low urinary oestriol excretion during pregnancy associated with placental sulphatase deficiency or congenital adrenal hypoplasia. J Obstet Gynaecol Br Commonw. 1972 Sep;79(9):810–815. doi: 10.1111/j.1471-0528.1972.tb12926.x. [DOI] [PubMed] [Google Scholar]
  8. France J. T., Liggins G. C. Placental sulfatase deficiency. J Clin Endocrinol Metab. 1969 Jan;29(1):138–141. doi: 10.1210/jcem-29-1-138. [DOI] [PubMed] [Google Scholar]
  9. France J. T., Seddon R. J., Liggins G. C. A study of pregnancy with low estrogen production due to placental sulfatase deficiency. J Clin Endocrinol Metab. 1973 Jan;36(1):1–9. doi: 10.1210/jcem-36-1-1. [DOI] [PubMed] [Google Scholar]
  10. France J. T. Steroid sulphatase deficiency. J Steroid Biochem. 1979 Jul;11(1B):647–651. doi: 10.1016/0022-4731(79)90094-3. [DOI] [PubMed] [Google Scholar]
  11. Grose D. J. Placental sulphatase deficiency with spontaneous labour. Aust N Z J Obstet Gynaecol. 1979 Aug;19(3):148–149. doi: 10.1111/j.1479-828x.1979.tb02742.x. [DOI] [PubMed] [Google Scholar]
  12. Jöbsis A. C., De Groot W. P., Tigges A. J., De Bruijn H. W., Rijken Y., Meijer A. E., Marinkovic-Ilsen A. X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations. Am J Pathol. 1980 May;99(2):279–289. [PMC free article] [PubMed] [Google Scholar]
  13. Koppe G., Marinković-Ilsen A., Rijken Y., De Groot W. P., Jöbsis A. C. X-linked icthyosis. A sulphatase deficiency. Arch Dis Child. 1978 Oct;53(10):803–806. doi: 10.1136/adc.53.10.803. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Mango D., Montemurro A., Scirpa P., Bompiani A., Menini E. Four cases of pregnancy with low estrogen production due to placental enzymatic deficiency. Eur J Obstet Gynecol Reprod Biol. 1978 Apr;8(2):65–71. doi: 10.1016/0028-2243(78)90129-6. [DOI] [PubMed] [Google Scholar]
  15. McNaught R. W., France J. T. Studies of the biochemical basis of steroid sulphatase deficiency: preliminary evidence suggesting a defect in membrane-enzyme structure. J Steroid Biochem. 1980 Mar;13(3):363–373. doi: 10.1016/0022-4731(80)90017-5. [DOI] [PubMed] [Google Scholar]
  16. Oakey R. E., Cawood M. L., Macdonald R. R. Biochemical and clinical observations a pregnancy with placental sulphatase and other enzyme deficiencies. Clin Endocrinol (Oxf) 1974 Apr;3(2):131–148. doi: 10.1111/j.1365-2265.1974.tb01789.x. [DOI] [PubMed] [Google Scholar]
  17. Oakey R. E. Placental sulphatase deficiency: antepartum differential diagnosis from foetal adrenal hypoplasia. Clin Endocrinol (Oxf) 1978 Jul;9(1):81–88. doi: 10.1111/j.1365-2265.1978.tb03575.x. [DOI] [PubMed] [Google Scholar]
  18. Osathanondh R., Canick J., Ryan K. J., Tulchinsky D. Placental sulfatase deficiency: a case study. J Clin Endocrinol Metab. 1976 Jul;43(1):208–214. doi: 10.1210/jcem-43-1-208. [DOI] [PubMed] [Google Scholar]
  19. Phillipou G., Seamark R. F., Sweet R. Prenatal diagnosis of placental sulphatase deficiency. Aust N Z J Obstet Gynaecol. 1979 Nov;19(4):233–236. doi: 10.1111/j.1479-828x.1979.tb01381.x. [DOI] [PubMed] [Google Scholar]
  20. Shapiro L. J., Cousins L., Fluharty A. L., Stevens R. L., Kihara H. Steroid sulfatase deficiency. Pediatr Res. 1977 Aug;11(8):894–897. doi: 10.1203/00006450-197708000-00008. [DOI] [PubMed] [Google Scholar]
  21. Tabei T., Heinrichs W. L. Diagnosis of placental sulfatase deficiency.. Am J Obstet Gynecol. 1976 Feb 15;124(4):409–414. doi: 10.1016/0002-9378(76)90102-2. [DOI] [PubMed] [Google Scholar]
  22. Taylor N. F., Shackleton C. H. Gas chromatographic steroid analysis for diagnosis of placental sulfatase deficiency: a study of nine patients. J Clin Endocrinol Metab. 1979 Jul;49(1):78–86. doi: 10.1210/jcem-49-1-78. [DOI] [PubMed] [Google Scholar]
  23. Trolle D., Bock J. E., Gaede P. The prognostic and diagnostic value of total estriol in urine and in serum and of human placental lactogen hormone in serum in the last part of pregnancy. Am J Obstet Gynecol. 1976 Dec 1;126(7):834–844. doi: 10.1016/0002-9378(76)90672-4. [DOI] [PubMed] [Google Scholar]
  24. Webster D., France J. T., Shapiro L. J., Weiss R. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet. 1978 Jan 14;1(8055):70–72. doi: 10.1016/s0140-6736(78)90005-3. [DOI] [PubMed] [Google Scholar]
  25. Wilde C. E., Oakey R. E., Scientific and Technical Committee. Association of Clinical Biochemists Biochemical tests for the assessment of feto-placental function. Ann Clin Biochem. 1975 May;12(3):83–118. doi: 10.1177/000456327501200124. [DOI] [PubMed] [Google Scholar]
  26. de Groot W. P., Jobsis A. C., Marinkovic-Ilsen A., Koppe J. G., de Bruijn H. W. Sex-linked ichthyosis and placental sulphatase C deficiency. Br J Dermatol. 1980 Jul;103(1):73–79. doi: 10.1111/j.1365-2133.1980.tb15840.x. [DOI] [PubMed] [Google Scholar]

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