Gene Polymorphisms Influencing Steroid Synthesis and Action

NCT00485186 | Withdrawn

• 1 other identifier: D429/05
• Study Type: observational
• Target: N/A
• Locations: 0 countries
• Sites: N/A

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.

Conditions

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

Study Arms (2)

1

2

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Inclusion Criteria: * Disorders of Sex Development * Congenital Adrenal Hyperplasia * Congenital Adrenal Hypoplasia * Adrenal Insufficiency * Mineralocorticoid Deficiency * Salt-loss

You may qualify if:

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

Sponsors & Collaborators

• University Hospital Schleswig-Holstein: lead

MeSH Terms

Conditions

Disorders of Sex Development; Adrenal Hyperplasia, Congenital; Hypoadrenocorticism, Familial; Adrenal Insufficiency; Ovotesticular Disorders of Sex Development

Condition Hierarchy (Ancestors)

Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Gonadal Disorders; Endocrine System Diseases; Adrenogenital Syndrome; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Addison Disease

Study Officials

• Paul-Martin Holterhus, MD

  University Hospital Schleswig-Holstein

  STUDY CHAIR

• Felix G Riepe, MD

  University Hospital Schleswig-Holstein

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr.

Study Record Dates

• First Submitted: June 8, 2007
• First Posted: June 12, 2007
• Study Start: June 1, 2007
• Primary Completion: June 1, 2013
• Study Completion: June 1, 2013
• Last Updated: September 5, 2013

Record last verified: 2013-09