Summary
The case of a 6 1/2 year-old girl with 3ß-hydroxy steroid dehydrogenase deficiency is reported. The child had severe salt-wasting during infancy. After ACTH-administration, the predominant steroid was D5-pregnenetriol, which was identified by mass spectrometry. D5-pregnenediol was also identified. Testosterone, pregnanetriolone and tetrahydro-S were not detectable. The patient shows some differences compared to the classical description of the syndrome: the external genitalia are normal, and not dehydroepiandrosterone but andro- sterone was the predominant 17-ketosteroid. In addition, pregnanetriol was present. Like the only other surviving patient of our knowledge (Bongiovanni), this girl has most likely a partial 3ß-hydroxy steroid dehydrogenase deficiency.
Mit Unterstützung des Schweiz. Nationalfonds zur Förderung der wissenschaftlichen Forschung (Nr. 3.68.68).
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Bongiovanni, A. M.: The Adrenogenital Syndrome with Deficiency of 3ß-Hydroxy- steroid Dehydrogenase. J. clin. Invest. 41, 2086 (1962).
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Zachmann, M., Völlmin, J.A., Mürset, G., Curtius, HC., Prader, A. (1970). 3β-Hydroxy-Steroid-Dehydrogenase-Mangel bei einem überlebenden Mädchen mit Salzverlust-Syndrom und normalem weiblichem Genitale. In: Kracht, J. (eds) Endokrinologie der Entwicklung und Reifung. Symposion der Deutschen Gesellschaft für Endokrinologie in Ulm vom 26.—28. Februar 1970, vol 16. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-80591-2_53
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DOI: https://doi.org/10.1007/978-3-642-80591-2_53
Publisher Name: Springer, Berlin, Heidelberg
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