Vol 59, No 4 (2008)
Review paper
Published online: 2008-07-09

open access

Page views 583
Article views/downloads 17351
Get Citation

Connect on Social Media

Connect on Social Media

Rare congenital defects of adrenal steroidogenesis

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

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.

Article available in PDF format

View PDF (Polish) Download PDF file