Prospective Genetic Study in Patients With Ovarian Insufficiency

Study Overview
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Brief Summary
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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
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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.

Official Title
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Prospective Genetic Study in Patients With Ovarian Insufficiency

Conditions
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Premature Ovarian Failure, Primary Ovarian Insufficiency, Ovarian Dysgenesis, Diminished Ovarian Reserve

Intervention / Treatment
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* Procedure: IVF treatment


Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| IVF treatment group<br>Patients treated with IVF. IVF promotion process, ovulation, fertilization, embryo quality, transplantation and final outcome were collected after the treatment cycle was completed. | Procedure: IVF treatment<br>* Relationship between IVF treatment outcome and genotypes in POI//DOR/ovarian dysgenesis patients<br>* Other names: No IVF treatment;|
| No IVF treatment group<br>the patients who did not have received IVF treatment .Patients were followed up to collect hormone levels, ultrasound results. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotype | Measure the genotype by genome-wide sequencing of exomes(WES) in subjects. | 1/4/2018-24/12/2020 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Dimensions of uterus | Measure the vertical diameter，transverse diameter and anteroposterior diameter of uterus in millimeters | 1/4/2018-24/12/2020 | 
| Antral follicle count | Measure the basic antral follicle count before controlled ovarian hyperstimulation. | 1/4/2018-24/12/2020 | 
| Endometrial thickness | Measure endometrial thickness of subjects in millimeters. | 1/4/2018-24/12/2020 | 
| Live birth rate | Record the live birth rate of offspring in in both groups. | 1/4/2018-24/12/2020 | 
| Neonatal weight | Record the neonatal weight(in kilogram) of offspring in two groups. | 1/4/2018-24/12/2020 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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POI, DOR, Genetic causes, etiology