Identifying New Genetic Causes to Development Disorders

Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development

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.

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