Genetic Variants in Idiopathic Premature Ovarian Insufficiency
ConditionPremature Ovarian Insufficiency
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age18-39
SponsorAbdurrahman Hamdi İnan
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Women aged 18 to 39 years.
Spontaneous amenorrhea or marked menstrual irregularity lasting at least 4 months.
Serum FSH level greater than 25 IU/L. In cases of diagnostic uncertainty, FSH measurement may be repeated after 4 to 6 weeks.
Diagnosis of idiopathic premature ovarian insufficiency, with no known chromosomal abnormality, FMR1 premutation, defined syndromic genetic diagnosis, or iatrogenic cause.
Disqualifiers
Known chromosomal abnormality, such as Turner syndrome or structural X chromosome abnormality.
FMR1 premutation carrier status.
Previously defined syndromic genetic diagnosis.
Active malignancy.
Trial population
The study population will consist of women aged 18 to 39 years who are evaluated at the Department of Obstetrics and Gynecology/Reproductive Endocrinology clinics. The case group will include women diagnosed with idiopathic premature ovarian insufficiency, defined by spontaneous amenorrhea or marked menstrual irregularity lasting at least 4 months and elevated serum FSH levels. The control group will include age- and ethnicity-matched women with regular menstrual cycles, normal ovarian reserve findings for age, and no known history of infertility, premature ovarian insufficiency, gonadotoxic treatment, or ovarian surgery.
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
100 Participants
are grouped into 2 trial groupsGroup A: Idiopathic Premature Ovarian Insufficiency Group
Group B: Control Group
Trial outcomes
Primary outcomes
1
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 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Abdurrahman Hamdi İnan
Lead sponsor
Tepecik Training and Research Hospital
Sponsor institution
Source ClinicalTrials.gov
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