Prospective Genetic Study in Patients With Ovarian Insufficiency
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Premature Ovarian Failure
- Sponsor
- The First Affiliated Hospital of Anhui Medical University
- Enrollment
- 300
- Locations
- 1
- Primary Endpoint
- Genotype
- Last Updated
- 5 years ago
Overview
Brief Summary
genetic screening and etiological analysis was conducted on patients with ovarian insufficiency and decline in ovarian reserve. All patients were enrolled in the IVF-treated and non-IVF-treated groups, followed up for long-term treatment outcomes and genomic screening.
Detailed Description
The cause of ovarian insufficiency and decline in ovarian reserve are not clear, but most researchers think the probable causes are mainly three aspects: chromosomal abnormalities, genetic factors and autoimmune diseases，But the majority of patients with normal chromosome karyotype analysis. The screening of pathogenic genes in patients with normal karyotype is the focus of current premature ovarian insufficiency(POI) and decline in ovarian reserve(DOR) etiology, to further explain the pathogenesis of patients, improve the diagnosis of those diseases and Clinical treatment.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Patients diagnosed as "premature ovarian insufficiency", "diminished ovarian reserve", "primary amenorrhea", " ovarian dysgenesis", " repeated implantation failure"
Exclusion Criteria
- •To rule out polycystic ovary syndrome（PCOS）, iatrogenic factors (such as surgery, radiotherapy and chemotherapy, etc.) lead to premature ovarian insufficiency in patients
Outcomes
Primary Outcomes
Genotype
Time Frame: 1/4/2018-24/12/2020
Measure the genotype by genome-wide sequencing of exomes(WES) in subjects.
Secondary Outcomes
- Neonatal weight(1/4/2018-24/12/2020)
- Endometrial thickness(1/4/2018-24/12/2020)
- Dimensions of uterus(1/4/2018-24/12/2020)
- Live birth rate(1/4/2018-24/12/2020)
- Antral follicle count(1/4/2018-24/12/2020)