Adrenal Insufficiency, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia, Disorders of Sex Development, Intersex, Mineralocorticoid Deficiency
Conditions
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.
Interventions
None listed
Sponsors
University Hospital Schleswig-Holstein
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Disorders of Sex Development * Congenital Adrenal Hyperplasia * Congenital Adrenal Hypoplasia * Adrenal Insufficiency * Mineralocorticoid Deficiency * Salt-loss
Outcome results
None listed