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  • Title: A virilizing adrenal tumor with borderline elevation of urinary 17-ketosteroids and histochemical demonstration of a deficiency in the delta 5/delta 4-isomerase, 3 beta-hydroxysteroid dehydrogenase enzymatic system.
    Author: Neto RM, Mello de Oliveira JA, Sa MF, Cornicelli J.
    Journal: Acta Paediatr Scand; 1979 May; 68(3):459-64. PubMed ID: 443047.
    Abstract:
    A 3-year-old girl affected by a virilizing tumor of the adrenal gland, without significant elevation in the levels of 17 ketosteroids (17-KS) urinary excretion, was studied clinically. Her symptoms started abruptyly at the age of 2, with progressive enlargement of the clitoris and the appearance of pubic hair. In various tests, the 17-KS levels barely exceeded the upper normal limits and at times remained within normal limits. The retropneumoperitoneum X-ray suggested an enlargement of the right adrenal gland and the presence of a neoplasm, which was actually discovered during surgery. Histopathological examination revealed a well-defined neoplasm, without capsule invasion and with accentuated cell polymorphism. Histoenzymology showed that the tissue lacked the enzymatic system involving 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD). Indoxylesterase (I.EST-A) activity identified the tumor as originating from the internal layers of the adrenal cortex. The histochemical findings were correlated to the clinical picture and the levels of urinary 17-KS.
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