Human Genetics

, Volume 65, Issue 4, pp 355–357

Steroid sulphatase in man: A non inactivated X-locus with partial gene dosage compensation

  • G. Lykkesfeldt
  • Anne E. Lykkesfeldt
  • N. E. Skakkebæk
Original Investigations


Steroid sulphatase (STS) activity was measured with two different steroid substrates in leucocytes from normal human males and females, from females heterozygous for STS deficiency and recessive X-linked ichthyosis, and from individuals with numerical X chromosome aberrations. The results indicate non-inactivation with a partial gene dosage compensation at the STS locus. It is estimated that STS loci on inactive X chromosomes express approximately 45% of the STS activity originating from STS loci on active X chromosomes. It is also demonstrated that 45.XO (Turner syndrome) and 47,XXY (Klinefelter syndrome) individuals have abnormal STS enzyme levels compared with normal women and men, respectively.


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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • G. Lykkesfeldt
    • 1
  • Anne E. Lykkesfeldt
    • 2
  • N. E. Skakkebæk
    • 1
    • 3
  1. 1.Department of Obstetrics and Gynaecology Y, RigshospitaletUniversity of CopenhagenCopenhagen ØDenmark
  2. 2.The Fibiger LaboratoryCopenhagen ØDenmark
  3. 3.University Department of PaediatricsChildrens HospitalCopenhagen FDenmark
  4. 4.GentofteDenmark

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