Purpose

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 Intervention
Disorders of Sex Development
Congenital Adrenal Hyperplasia
Congenital Adrenal Hypoplasia
Adrenal Insufficiency
Mineralocorticoid Deficiency
 Procedure: blood drawing

Genetics Home Reference related topics:   21-hydroxylase deficiency  

MedlinePlus related topics:   Addison's Disease  

U.S. FDA Resources

Study Type:   Observational
Study Design:   Natural History, Cross-Sectional, Defined Population, Retrospective Study
Official Title:   Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development

Further study details as provided by University of Schleswig-Holstein:

Estimated Enrollment:   200
Study Start Date:   June 2007
Estimated Study Completion Date:   June 2017

  Eligibility
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes

Criteria

Inclusion Criteria:

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

Please refer to this study by its ClinicalTrials.gov identifier: NCT00485186

Contacts
Contact: Felix G Riepe, MD     49 431 597 ext 1622     friepe@pediatrics.uni-kiel.de    
Contact: Paul-Martin Holterhus, MD     49 431 597 ext 1622     holterhus@pediatrics.uni-kiel.de    

Locations
Germany
University Hospital Schleswig-Holstein     Recruiting
      Kiel, Germany, 24105
      Contact: Felix G Riepe, MD     49 431 597 ext 1622     friepe@pediatrics.uni-kiel.de    

Sponsors and Collaborators
University of Schleswig-Holstein

Investigators
Study Chair:     Paul-Martin Holterhus, MD     University Hospital Schleswig-Holstein - Kiel Campus    
Principal Investigator:     Felix G Riepe, MD     University Hospital Schleswig-Holstein - Kiel Campus    
Contact: Felix G Riepe, MD     49 431 597 ext 1622     friepe@pediatrics.uni-kiel.de    
Contact: Paul-Martin Holterhus, MD     49 431 597 ext 1622     holterhus@pediatrics.uni-kiel.de    
Germany
University Hospital Schleswig-Holstein     Recruiting
      Kiel, Germany, 24105
      Contact: Felix G Riepe, MD     49 431 597 ext 1622     friepe@pediatrics.uni-kiel.de    
University of Schleswig-Holstein
Study Chair:     Paul-Martin Holterhus, MD     University Hospital Schleswig-Holstein - Kiel Campus    
Principal Investigator:     Felix G Riepe, MD     University Hospital Schleswig-Holstein - Kiel Campus    
  More Information

Study ID Numbers:   D429/05
First Received:   June 8, 2007
Last Updated:   June 8, 2007
ClinicalTrials.gov Identifier:   NCT00485186
Health Authority:   Germany: Federal Institute for Drugs and Medical Devices

Study placed in the following topic categories:
Adrenal Insufficiency
Addison's disease
Autoimmune Diseases
Gonadal Disorders
Adrenogenital Syndrome
Adrenal Gland Diseases
X-linked adrenal hypoplasia congenita
Hypoadrenalism
Adrenal gland hypofunction
Metabolism, Inborn Errors
Adrenal hyperplasia
Hyperplasia
Adrenoleukodystrophy
Addison Disease
Adrenal Hyperplasia, Congenital
Endocrinopathy
Metabolic disorder
X-linked adrenoleukodystrophy

Additional relevant MeSH terms:
Adrenal Hyperplasia, Congenital
Pathologic Processes
Metabolic Diseases
Disease
Immune System Diseases
Genetic Diseases, Inborn
Endocrine System Diseases
Sex Differentiation Disorders
Steroid Metabolism, Inborn Errors
Adrenogenital Syndrome

Source: National Library of Medicine (NLM) July 03, 2008

  


 
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