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Virilizing adrenal tumour mimicking congenital adrenal hyperplasia with P450c11 (11β-hydroxylase) deficiency

  • Endocrinology
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Abstract

In a girl aged 5 years with a virilizing adrenal adenoma the urinary and plasma steroid findings suggested the diagnosis of congenital adrenal hyperplasia due to P450c11 (11β-hydroxylase) deficiency. After removal of the tumour clinical signs receded and the hormonal values normalized. RNA analysis of the tumour tissue revealed low amounts of P450c11 mRNA which indicates that P450c11 deficiency of the adenoma caused the steroid abnormalities in this girl.

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Abbreviations

THS :

tetrahydro-S

DHA :

dehydroepiandrosterone

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Authors and Affiliations

  1. Ostschweizerisches Kinderspital, Claudiusstrasse 6, CH-9006 St., Gallen, Switzerland

    E. A. Werder

  2. Universitäts-Kinderklinik Zürich, Switzerland

    E. A. Werder & M. Zachmann

  3. Departments of Paediatrics and Pathology, University of Helsinki, Finland

    R. Voutilainen

Authors
  1. E. A. Werder
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  2. R. Voutilainen
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  3. M. Zachmann
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Werder, E.A., Voutilainen, R. & Zachmann, M. Virilizing adrenal tumour mimicking congenital adrenal hyperplasia with P450c11 (11β-hydroxylase) deficiency. Eur J Pediatr 153, 411–415 (1994). https://doi.org/10.1007/BF01983403

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  • DOI: https://doi.org/10.1007/BF01983403

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