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Gene Polymorphisms Influencing Steroid Synthesis and Action

NCT00485186 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2013-09-05

No results posted yet for this study

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.

Conditions

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

Sponsors & Collaborators

  • University Hospital Schleswig-Holstein

    lead OTHER

Principal Investigators

  • Paul-Martin Holterhus, MD · University Hospital Schleswig-Holstein

  • Felix G Riepe, MD · University Hospital Schleswig-Holstein

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2007-06-30
Primary Completion
2013-06-30
Completion
2013-06-30

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00485186 on ClinicalTrials.gov