Gene Polymorphisms Influencing Steroid Synthesis and Action

Withdrawn

• Conditions: Mineralocorticoid Deficiency; Intersex; Congenital Adrenal Hypoplasia; Adrenal Insufficiency; Disorders of Sex Development; Congenital Adrenal Hyperplasia

• Registration Number: NCT00485186
• Lead Sponsor: University Hospital Schleswig-Holstein

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2007-06
• Study First Submitted: 2007-06-08
• Study First Submitted QC: 2007-06-08
• Study First Posted: 2007-06-12
• Primary Completion: 2013-06
• Study Completion: 2013-06
• Status Verified: 2013-09
• Last Update Submitted: 2013-09-04
• Last Update Posted: 2013-09-05

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

• Disorders of Sex Development
• Congenital Adrenal Hyperplasia
• Congenital Adrenal Hypoplasia
• Adrenal Insufficiency
• Mineralocorticoid Deficiency
• Salt-loss

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified