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Horm Metab Res 1988; 20(6): 367-374
DOI: 10.1055/s-2007-1010838
Clinical

© Georg Thieme Verlag, Stuttgart · New York

In Vivo and In Vitro Studies in a 46, XY Phenotypically Female Infant with 17-Ketosteroid Reductase Deficiency

J. M. Wit, C. O. M. van Hooff, J. H. H. Thijssen, J. L. Van den Brande
  • Department of Pediatrics, Division of Endocrinology, University Hospital for Children and Youth “Het Wilhelmina Kinderziekenhuis”, and Department of Endocrinology, State University Utrecht, Utrecht, The Netherlands
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Publikationsverlauf

1987

1987

Publikationsdatum:
24. April 2008 (online)

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Summary

A 46, XY phenotypically female infant with 17-ketosteroid reductase (17-KSR) showed normal plasma androgens for chromosomal sex shortly after birth, but did not show the physiologic testosterone rise. One intramuscular injection with human chorionic gonadotropin resulted in high ratios between androstenedione/testosterone and dehydroepiandrosterone/Δ5-androstenediol, confirming the diagnosis. In spermatic vein plasma similarly elevated ratios were found. A urinary steroid profile revealed elevated levels of metabolites of 17-OH-progesterone and androstenedione. In vitro studies in testicular tissue showed a decreased capacity of 17-ketosteroid reductase, the reduction capacity being more affected than the oxidation capacity. The activity of 3β-hydroxysteroid-dehydrogenase was slightly increased. The serial analysis of plasma androgens provides more insight in the natural history of 17-ketosteroid reductase.

Key-Words

Male Pseudohermaphroditism - 17-Ketosteroid Reductase