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100 women with primary ovarian insufficiency will be included for extensive diagnostic workup to improve diagnostic precision by extended autoantibody screening and genetic and toxicological testing.
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| Measure | Description | Time Frame |
|---|---|---|
| Autoimmune | Prevalence of primary ovarian insufficiency (POI) with autoimmune etiology based on positive autoantibodies toward steroidogenic cells | one day |
| Genetic | Prevalence of POI with genetic etiology defined by detection of genetic defects in a NGS panel | one day |
| Endocrine disrupting chemicals | Characterize the cohort of women with POI, including testing for environmental factors | one day |
| Measure | Description | Time Frame |
|---|---|---|
| Phenotype description | Describe phenotypical characteristics including menstrual characteristics, hormone profile, BMD | one day |
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Inclusion Criteria:Women 40 years or younger, more than 4 months amenorrhea, more than 2 FSH measurements in menopausal range (drawn at least 2 months apart), ability to provide informed concent -
Exclusion Criteria:History of oophorectomy, chemotherapy or radiation
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Ovarian insufficiency
100 women with primary ovarian insufficiency defined as absence of menstruation more than 4 months and serum level of follicle stimulation hormone (FSH) in menopausal range at 2 or more occations
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Eystein Husebye, prof | Contact | +4755975000 | eyhu@helse-bergen.no |
| Name | Affiliation | Role |
|---|---|---|
| Kahtan Al-Azawy, MD | Haukeland University Hospital | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| HaukelandUH | Recruiting | Bergen | Norway |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 37953503 | Derived | Vogt EC, Bratland E, Berland S, Berentsen R, Lund A, Bjornsdottir S, Husebye E, Oksnes M. Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing. Hum Reprod. 2024 Jan 5;39(1):177-189. doi: 10.1093/humrep/dead233. |
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| ID | Term |
|---|---|
| D016649 | Primary Ovarian Insufficiency |
| D008594 | Menopause, Premature |
| ID | Term |
|---|---|
| D010049 | Ovarian Diseases |
| D000291 | Adnexal Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
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serum
| D005261 |
| Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D000091662 | Genital Diseases |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |