Identifying New Genetic Causes to Development Disorders

Fondation Ophtalmologique Adolphe de Rothschild1,100 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

1,100

Conditions

Disorders of Sex Development Growth Disorders Puberty Disorders

Interventions

blood sampleGENETIC

search for genetic mutations

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

Hôpital Fondation A de Rothschild

Paris, France

RECRUITING

Outcomes

Primary Outcomes

mutation research

frequency of genetic mutation

Time frame: baseline

Central Contacts

Amélie YAVCHITZ, MD, PHD

CONTACT

01 48 03 64 54 ayavchitz@for.paris

Data from ClinicalTrials.gov

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