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| Name | Class |
|---|---|
| Istanbul University | OTHER |
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Premature Ovarian Insufficiency (POI), first described by Albright in 1942, is defined as an increase in Follicle Stimulating Hormone (FSH), an insufficiency of the ovarian function leading to an early menopause (<40 years of age).Today, only 35% of POI's etiology can be explained. Causes enlightening POI may be enumerated as follows, according to their frequency: genetic mutations, autoimmune defects and abnormalities detected on the X chromosome.The purpose of the study is to determine the frequency of the genetic abnormalities and polymorphisms described above in the POI Turkish population
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| premature ovarian Insufficiency | 4ml whole blood sample is going to collect from premature ovarian Insufficiency group for the assessment of genetic abnormalities | ||
| healthy control group | 4 ml of whole blood is going to taken from healthy control group |
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| Measure | Description | Time Frame |
|---|---|---|
| Genetic etiology in Premature ovarian Insufficiency | In the framework of our project, abnormalities on the X chromosome will be studied by karyotyping, follicle-stimulating hormone receptor (FSHR),nuclear receptor subfamily 5,group A,member 1 (NR5A1),Newborn ovary homeobox gene (NOBOX),Bone morphogenetic protein 15 (BMP15) genes will be analyzed by sequencing and finally repeat size analysis for FMR1 gene will be performed fragment analyses, on 75 POI and 25 healthy control population.Collected data will enable us to determine the frequency of the abnormalities and polymorphisms described above in the POI Turkish population. Patients free of those genetic variants will help us to identify new loci or genes implicated in POI. | up to 1 year |
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Inclusion Criteria:
Exclusion Criteria:
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patients who are admitted to obstetrics and gynecology department
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| Name | Affiliation | Role |
|---|---|---|
| Engin Oral, Prof,OBGYN | Istanbul University | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Istanbul University Cerrahpasa Medical school Obstetrics department | Istanbul | Turkey (Türkiye) |
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| ID | Term |
|---|---|
| D016649 | Primary Ovarian Insufficiency |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D010049 | Ovarian Diseases |
| D000291 | Adnexal Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
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4ml whole blood sample
| D005261 |
| Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D000091662 | Genital Diseases |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |