Virilizing adrenal tumour mimicking congenital adrenal hyperplasia (July 2002)

Here is another thought ... if I can not a carrier of CAH... how can my child have CAH...

http://link.springer.de/link/service/journals/00431/bibs/4153006/41530411.htm

European Journal of Pediatrics

ISSN: 0340-6199 (printed version)
ISSN: 1432-1076 (electronic version)

Abstract Volume 153 Issue 6 (1994) pp 411-415

Virilizing adrenal tumour mimicking congenital adrenal hyperplasia with P450c11 (11<beta>-hydroxylase) deficiency

E. A. Werder (1)(2), R. Voutilainen (3), M. Zachmann (2)

(1) Ostschweizerisches Kinderspital, Claudiusstrasse 6, CH-9006 St. Gallen, Switzerland
(2) Universitäts-Kinderklinik Zürich, Switzerland
(3) Departments of Paediatrics and Pathology, University of Helsinki, Finland

Received: 26 August 1993 Accepted: 16 December 1993

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 (11<beta>-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.

Key words Adrenal cortex neoplasms enzymology · Childhood · Urine steroids · P450c11 mRNA · P450c11 (11<beta>-hydroxylase) deficiency

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