Premature ovarian insufficiency is a condition in which ovarian function decreases or is lost before the age of 40 years. In many patients, the underlying cause remains unexplained. This prospective observational case-control study aims to investigate pathogenic and likely pathogenic genetic variants in DNA repair and meiotic genes related to ovarian reserve and folliculogenesis in women with idiopathic premature ovarian insufficiency. The study will include women younger than 40 years with idiopathic premature ovarian insufficiency and age- and ethnicity-matched control participants with normal ovarian function. Clinical and reproductive data will be collected, and a peripheral blood sample will be obtained from each participant for whole exome sequencing. The frequency of pathogenic or likely pathogenic variants will be compared between the case and control groups. No investigational drug, device, or treatment intervention will be administered.
Study Type
OBSERVATIONAL
Enrollment
100
University of Health Sciences Tepecik Training and Research Hospital, Department of Obstetrics and Gynecology
Bornova, İzmir, Turkey (Türkiye)
Prevalence of Pathogenic or Likely Pathogenic Variants in the Target Gene Set
Proportion of participants in each group who carry pathogenic or likely pathogenic variants, classified according to ACMG/AMP criteria, in the predefined 57-gene target set related to ovarian reserve, folliculogenesis, DNA repair, and meiosis.
Time frame: Through study completion, up to 24 months
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