Premature Ovarian Failure (Genetic and Physiopathologic Analysis) (GéNIOP)

Assistance Publique - Hôpitaux de Paris

Status: Unknown

Conditions: Premature Ovarian Failure

Study type: Observational

Funder types: Other

Identifiers

NCT00780897

P040801

Details and patient eligibility

About

Premature Ovarian Failure (POF), syndrome observed in young woman, present consequences on hormonal and leads at definitive infertility. It's a rare and complex syndrome and for this reason, we propose to initiate a collaborative team network to understand better his genetic and physiopathology.

We are going to realize a global study of this syndrome with clinical and fundamentals approaches. We wish that this project allows us to understand better the physiopathology of this rare disease. Finally, POF responsible genes identification is the base for future development of therapeutics approaches.

Full description

Premature ovarian failure (POF) is a rare but not exceptional disease concerning 0.1% of the more-than-thirty-years-old women. On the clinical aspect, patients present a primary or secondary amenorrhea depending on when the disease occurs in their lives. Infertility is most of the time definitive and the yet only available therapy is auto implantation of cryopreserved oocytes. Initiation of a substitutive hormonal treatment is also necessary to prevent the consequences of estrogenic hardship (i.e leading to osteoporosis).

POF has numerous possible origins, and can be linked to auto-immune diseases, metabolic disorders (i.e. galactosemia) or even genetic abnormalities. According to her origin, POF is characterized by (a) a depletion of primary follicles, (b) increased or accelerated follicle atresia (c) an alteration of the recruitment of dominant follicle and (d) stopped follicular maturation.

The purpose of our work is to organize a clinical and fundamental research network focussed on premature ovarian failure (POF). It will aim to collect clinical, biological, radiological and histological information on patients, and according to their phenotypes, to decide for searching possible genetic abnormalities leading to POF. And in the same time, the constitution of a broad tissue collection allows the study of ovarian transcripts, using POF as a pathologic model to describe ovaries and follicle development-involved genes.

Enrollment: 87 estimated patients

Sex: Female

Ages: 18 to 39 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion criteria :

Experimental group:

• 18 years <Age> 39 years
• Patient with amenorrhea since at least 3 months
• Patient with at least 1 FSH dosage > 30 mUI/L
• Patients between 40 and 45 years old with hormonal results indicating a POF declared before 39 years old will be included.
• Informed Consent Form Signature

Control group:

• 18 years <Age> 39 years
• Patient having a benign ovarian pathology justifying an ovarian surgery
• Informed Consent Form Signature

Exclusion criteria:

Not applicable

Trial design

87 participants in 2 patient groups

1

Description:

POF patients; 18 years \<Age\> 40 years; Hormonal sampling; FMR1 analysis; FSH Receptor gene analysis; LH Receptor gene analysis; BMP15 gene analysis; GDF9 gene analysis; Connexin 37 analysis; Ovarian biopsy; Bone Mineral Density; Pelvic Ultrasonography;

2

Description:

Control Group No POF patients; Benign ovarian pathology; 18 years \<Age\> 40 years; Hormonal sampling; FMR1 analyze; FSH Receptor gene analysis; LH Receptor gene analysis; BMP15 gene analysis; GDF9 gene analysis; Connexin 37 analysis; Ovarian biopsy under specific conditions; Bone Mineral Density; Pelvic Ultrasonography