Disorders of Sex Development, Growth Disorders, Puberty Disorders
Conditions
Brief summary
Disorders of growth, puberty and sex development can have genetic causes. The exome analysis could detect new mutations responsible for these disorders and the frequency of these mutations in these disorders, their association with other malformations.
Interventions
search for genetic mutations
Sponsors
Study design
Eligibility
Inclusion criteria
* congenital growth hormone deficiency * puberty disorder * gonadal dysgenesis or anorchia * primary ovarian failure * disorder of sex development * subjects related to a patient with one of the above criteria
Exclusion criteria
* environmental or auto-immune cause
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| mutation research | baseline | frequency of genetic mutation |
Countries
France