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Clinical Trial Summary

The extend of steroid biosynthesis and action is mainly dependent on underlying genetic polymorphisms and gene mutations. These sequence variations in multiple genes involved in steroid biosynthesis and action cause different diseases (for example congenital adrenal hyperplasia or disorders of sex development). In addition, sequence variations in several other genes may influence the severity of a genetically caused disease of steroid biosynthesis or action. By this, the differences in an observed phenotype may be explained. Within the study all genes necessary for adrenal and gonadal steroid biosynthesis and several genes which are known to influence the action of steroid hormones will be analysed in patients with congenital disorders of adrenal and gonadal steroid biosynthesis, disorders of steroid action and disorders of sex development. The primary aim is to set up a correlation of the disease phenotype with the different genotypes detected.


Clinical Trial Description

n/a


Study Design

Observational Model: Family-Based, Time Perspective: Prospective


Related Conditions & MeSH terms


NCT number NCT00485186
Study type Observational
Source University of Schleswig-Holstein
Contact
Status Withdrawn
Phase N/A
Start date June 2007
Completion date June 2013

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