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Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent |
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| Authors: | G Lykkesfeldt J Müller N E Skakkebæk E Bruun A E Lykkesfeldt |
| Institution: | (1) Department of Obstetrics and Gynaecology Y and Laboratory of Reproductive Biology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark;(2) Hvidovre Hospital, University Department of Paediatrics, Copenhagen, Denmark;(3) Department of Urology, Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark;(4) Fibiger Institute, Danish Cancer Society, Copenhagen, Denmark;(5) Skolvej 15, DK-2820 Gentofte, Denmark |
| Abstract: | We present a 14-year-old boy with recessive X-linked ichthyosis in whom only one testis could be found. In this apparently normal testis, a lack of activity of the enzyme steroid sulphatase was demonstrated. Several male patients with recessive X-linked ichthyosis have been reported to have testicular diseases, and it is suggested that this may be related to the absence of testicular steroid sulphatase activity.Abbreviations RXLI recessive X-linked ichthyosis - STS steroid sulphatase |
| Keywords: | Recessive X-linked ichthyosis Testicular steroid sulphatase deficiency Cryptorchidism |
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