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Gene Polymorphisms Influencing Steroid Synthesis and Action

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ClinicalTrials.gov Identifier: NCT00485186
Recruitment Status : Withdrawn
First Posted : June 12, 2007
Last Update Posted : September 5, 2013
Sponsor:
Information provided by (Responsible Party):
Felix Riepe, University of Schleswig-Holstein

Study Description
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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.

Condition or disease
Disorders of Sex Development Congenital Adrenal Hyperplasia Congenital Adrenal Hypoplasia Adrenal Insufficiency Mineralocorticoid Deficiency Intersex

Study Design
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Study Type : Observational
Actual Enrollment : 0 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development
Study Start Date : June 2007
Actual Primary Completion Date : June 2013
Actual Study Completion Date : June 2013

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Groups and Cohorts
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Group/Cohort
1
2


Outcome Measures
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Eligibility Criteria
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

Inclusion Criteria:

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

Inclusion Criteria:

  • Disorders of Sex Development
  • Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hypoplasia
  • Adrenal Insufficiency
  • Mineralocorticoid Deficiency
  • Salt-loss
Contacts and Locations
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00485186


Sponsors and Collaborators
University of Schleswig-Holstein
Investigators
Study Chair: Paul-Martin Holterhus, MD University of Schleswig-Holstein
Principal Investigator: Felix G Riepe, MD University of Schleswig-Holstein
More Information
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party: Felix Riepe, Prof. Dr., University of Schleswig-Holstein
ClinicalTrials.gov Identifier: NCT00485186     History of Changes
Other Study ID Numbers: D429/05
First Posted: June 12, 2007    Key Record Dates
Last Update Posted: September 5, 2013
Last Verified: September 2013

Additional relevant MeSH terms:
Addison Disease
Hyperplasia
Adrenal Insufficiency
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Disorders of Sex Development
Hypoaldosteronism
Genetic Diseases, X-Linked
Pathologic Processes
Adrenal Gland Diseases
 Endocrine System Diseases
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Gonadal Disorders
Autoimmune Diseases
Immune System Diseases