open access

Vol 59, No 4 (2008)
Postgraduate education
Published online: 2008-07-09
Submitted: 2013-02-15
Get Citation

Rare congenital defects of adrenal steroidogenesis

Robert Krysiak, Bogdan Marek, Bogusław Okopień
Endokrynologia Polska 2008;59(4):354-365.

open access

Vol 59, No 4 (2008)
Postgraduate education
Published online: 2008-07-09
Submitted: 2013-02-15

Abstract

Congenital defects of adrenal steroidogenesis comprises a group of autosomally recessive disorders, which are usually caused by inactivating mutations in single enzymes involved in adrenal steroid biosynthesis. Each of the defects causes different biochemical consequences and clinical features. A different degree of enzyme dysfunction is responsible for a wide range of phenotypic expression even in the same disorder. The basis for the diagnosis of inborn errors of steroidogenesis are often refined methods for steroid determination. Because these defects may result in life-threatening conditions and, if not treated, lead to serious complications, its is essential to consider their presence in a differential diagnosis of various symptoms. Deficiency of 21-hydroxylase, the most common of these disorders, has been recently extensively reviewed. Therefore, this paper discusses the etiopathogenesis, clinical manifestation, biochemical abnormalities and management of other less frequent defects of adrenal steroidogenesis.

Abstract

Congenital defects of adrenal steroidogenesis comprises a group of autosomally recessive disorders, which are usually caused by inactivating mutations in single enzymes involved in adrenal steroid biosynthesis. Each of the defects causes different biochemical consequences and clinical features. A different degree of enzyme dysfunction is responsible for a wide range of phenotypic expression even in the same disorder. The basis for the diagnosis of inborn errors of steroidogenesis are often refined methods for steroid determination. Because these defects may result in life-threatening conditions and, if not treated, lead to serious complications, its is essential to consider their presence in a differential diagnosis of various symptoms. Deficiency of 21-hydroxylase, the most common of these disorders, has been recently extensively reviewed. Therefore, this paper discusses the etiopathogenesis, clinical manifestation, biochemical abnormalities and management of other less frequent defects of adrenal steroidogenesis.
Get Citation

Keywords

adrenal glands; abnormal steroidogenesis; symptoms; diagnosis; treatment

About this article
Title

Rare congenital defects of adrenal steroidogenesis

Journal

Endokrynologia Polska

Issue

Vol 59, No 4 (2008)

Pages

354-365

Published online

2008-07-09

Bibliographic record

Endokrynologia Polska 2008;59(4):354-365.

Keywords

adrenal glands
abnormal steroidogenesis
symptoms
diagnosis
treatment

Authors

Robert Krysiak
Bogdan Marek
Bogusław Okopień

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