open access

Vol 59, No 6 (2008)
Case report
Published online: 2008-10-30
Submitted: 2013-02-15
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Congenital adrenal hyperplasia caused by 11β-hydroxylase deficiency. A case report

Jadwiga Szymczak, Anna Bohdanowicz-Pawlak
Endokrynologia Polska 2008;59(6):521-528.

open access

Vol 59, No 6 (2008)
Case report
Published online: 2008-10-30
Submitted: 2013-02-15

Abstract

The authors describe a case of an adult woman with congenital adrenal hyperplasia caused by 11β-hydroxylase deficiency. The patient presented not only typical features of this disease such as virilization and hypokaliemic hypertension but also rare pathologies, such as ectopic adrenal tissues, salt loss during infancy, and functional adrenomedullary hyperactivity. In spite of the severe disease and delays in its diagnosis and adequate treatment, significant improvement in appearance and normalization of blood pressure as well as the birth of a healthy child were achieved. The paper also discusses current opinions concerning the pathogenesis and treatment in CAH with 11β-hydroxylase deficiency as well as difficulties in diagnostic and therapeutic management.

Abstract

The authors describe a case of an adult woman with congenital adrenal hyperplasia caused by 11β-hydroxylase deficiency. The patient presented not only typical features of this disease such as virilization and hypokaliemic hypertension but also rare pathologies, such as ectopic adrenal tissues, salt loss during infancy, and functional adrenomedullary hyperactivity. In spite of the severe disease and delays in its diagnosis and adequate treatment, significant improvement in appearance and normalization of blood pressure as well as the birth of a healthy child were achieved. The paper also discusses current opinions concerning the pathogenesis and treatment in CAH with 11β-hydroxylase deficiency as well as difficulties in diagnostic and therapeutic management.
Get Citation

Keywords

congenital adrenal hyperplasia; 11 β-hydroxylase deficiency; pregnancy

About this article
Title

Congenital adrenal hyperplasia caused by 11β-hydroxylase deficiency. A case report

Journal

Endokrynologia Polska

Issue

Vol 59, No 6 (2008)

Pages

521-528

Published online

2008-10-30

Bibliographic record

Endokrynologia Polska 2008;59(6):521-528.

Keywords

congenital adrenal hyperplasia
11 β-hydroxylase deficiency
pregnancy

Authors

Jadwiga Szymczak
Anna Bohdanowicz-Pawlak

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