Status:
COMPLETED
Genetic Analysis of Familial Cases of Premature Ovarian Failure
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Familial Premature Ovarian Failure
Eligibility:
All Genders
16+ years
Brief Summary
The Premature ovarian failure (POF) is a rare syndrome observed in women under 40 who induced estrogen deficiency and often leads to infertility final. The etiologies of POF remain unknown in more tha...
Detailed Description
It was decided to move towards a study of familial cases of IOP. This study will identify areas of susceptibility in new families, identify candidate genes, sequence these genes in cases familial POF ...
Eligibility Criteria
Inclusion
- Patients of familial cases of POF :
- Female subjects between 16 and 40 years or women older than 40 years with a cessation of ovarian function before the age of 40 years with increased levels of FSH
- Primary or secondary amenorrhea for more than three months with LH and FSH\> 30mUI/ml
- No cases of fragile X syndrome in the family or blepharophimosis syndrome
- At least two cases in the family
- Origin Caucasian
- Patient signing the consent form for at least the blood sample
- Patient with Social Security
- Population Index related topics :
- The presence of cycles until the age of 40 years with proven fertility, at least one child
- Amenorrhea and FSH\> 30mUI/ml according to the criteria of the index subject
- Men of the family of index case
- Population control :
- Women of Caucasian origin
- Women who had regular cycles until at least age 40 and at least one child
- Lack of land autoimmune (no history of thyroid disease or diabetes type 1)
- Woman signing the consent form for at least the blood sample
Exclusion
- Blood donation of more than 450ml in the previous three months.
- Subject with an abnormal karyotype in favor of Turner syndrome or having a premutation of the FMR1 gene or a syndromic form
- Subject exclusion period in another study without direct individual benefit
- Subject refusing to sign the consent form
Key Trial Info
Start Date :
October 1 2010
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
February 1 2014
Estimated Enrollment :
110 Patients enrolled
Trial Details
Trial ID
NCT01177891
Start Date
October 1 2010
End Date
February 1 2014
Last Update
March 26 2015
Active Locations (2)
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1
Hospital Saint-Antoine, Endocrinology service
Paris, France, 75012
2
Sophie Christin-Maitre
Paris, France, 75012