3β-Hydroxy-Steroid-Dehydrogenase-Mangel bei einem überlebenden Mädchen mit Salzverlust-Syndrom und normalem weiblichem Genitale

  • M. Zachmann
  • J. A. Völlmin
  • G. Mürset
  • H.-Ch. Curtius
  • A. Prader
Part of the Symposion der Deutschen Gesellschaft für Endokrinologie in Ulm vom 26.—28. Februar 1970 book series (ENDOKRINOLOGIE, volume 16)

Congenital Adrenal Hyperplasia due to Deficiency of 3β-Hydroxy Steroid Dehydrogenase. Surviving Girl with Normal Female Genitalia

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.

Literatur

  1. 1.
    Bongiovanni, A. M.: The Adrenogenital Syndrome with Deficiency of 3ß-Hydroxy- steroid Dehydrogenase. J. clin. Invest. 41, 2086 (1962).PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg New York 1970

Authors and Affiliations

  • M. Zachmann
    • 1
  • J. A. Völlmin
    • 1
  • G. Mürset
    • 1
  • H.-Ch. Curtius
    • 1
  • A. Prader
    • 1
  1. 1.Universitäts-Kinderklinik ZürichDeutschland

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