Identifying New Genetic Causes to Development Disorders (FORDEV)

Fondation Ophtalmologique Adolphe de Rothschild

Status: Enrolling

Conditions: Growth Disorders; Puberty Disorders; Disorders of Sex Development

Treatments: Genetic: blood sample

Study type: Observational

Funder types: NETWORK

Identifiers

NCT03283852

RBR_2016_16

Details and patient eligibility

About

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.

Enrollment: 1,100 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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