Gene Polymorphisms Influencing Steroid Synthesis and Action

Sponsor

University Hospital Schleswig-Holstein (Other)

Overall Status

Withdrawn

CT.gov ID

NCT00485186

Collaborator

(none)

Enrollment

Duration (Months)

Study Details

Study Description

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	Intervention/Treatment	Phase
Disorders of Sex Development Congenital Adrenal Hyperplasia Congenital Adrenal Hypoplasia Adrenal Insufficiency Mineralocorticoid Deficiency Intersex

Study Design

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 :

Jun 1, 2007

Actual Primary Completion Date :

Jun 1, 2013

Actual Study Completion Date :

Jun 1, 2013

Arms and Interventions

Arm	Intervention/Treatment
1
2

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

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

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

University Hospital Schleswig-Holstein

Investigators

Study Chair: Paul-Martin Holterhus, MD, University Hospital Schleswig-Holstein
Principal Investigator: Felix G Riepe, MD, University Hospital Schleswig-Holstein