Gene Polymorphisms Influencing Steroid Synthesis and Action
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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 |
|---|
|
Disorders of Sex Development Congenital Adrenal Hyperplasia Congenital Adrenal Hypoplasia Adrenal Insufficiency Mineralocorticoid Deficiency Intersex |
| Study Type: | Observational |
| Study Design: | 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 |
| Estimated Enrollment: | 500 |
| Study Start Date: | June 2007 |
| Estimated Study Completion Date: | June 2017 |
| Groups/Cohorts |
|---|
| 1 |
| 2 |
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Probability Sample |
Inclusion Criteria:
- Disorders of Sex Development
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hypoplasia
- Adrenal Insufficiency
- Mineralocorticoid Deficiency
- Salt-loss
Inclusion Criteria:
- Disorders of Sex Development
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hypoplasia
- Adrenal Insufficiency
- Mineralocorticoid Deficiency
- Salt-loss
Contacts and Locations| 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 | |
| Study Chair: | Paul-Martin Holterhus, MD | University of Schleswig-Holstein |
| Principal Investigator: | Felix G Riepe, MD | University of Schleswig-Holstein |
More Information
No publications provided
| Responsible Party: | Felix Riepe, University Hospital of Schleswig-Hostein |
| ClinicalTrials.gov Identifier: | NCT00485186 History of Changes |
| Other Study ID Numbers: | D429/05 |
| Study First Received: | June 8, 2007 |
| Last Updated: | June 24, 2010 |
| Health Authority: | Germany: Federal Institute for Drugs and Medical Devices |
Additional relevant MeSH terms:
|
Adrenal Insufficiency Addison Disease Adrenal Hyperplasia, Congenital Adrenogenital Syndrome Adrenocortical Hyperfunction Hyperplasia Disorders of Sex Development Genetic Diseases, X-Linked Adrenal Gland Diseases Endocrine System Diseases Autoimmune Diseases |
Immune System Diseases Urogenital Abnormalities Congenital Abnormalities Genetic Diseases, Inborn Steroid Metabolism, Inborn Errors Metabolism, Inborn Errors Metabolic Diseases Gonadal Disorders Pathologic Processes Sexual and Gender Disorders Mental Disorders |
ClinicalTrials.gov processed this record on June 18, 2013