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Investigation of Copy Number Variations and Genetic Variants in POI

NCT05327283 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2022-04-25

No results posted yet for this study

Summary

Primary ovarian insufficiency (POI), also known as premature ovarian failure, is an ovarian defect characterized by the premature (before the age of 40 years) depletion of ovarian follicles. POI affects about 1% of women, reaching 30% in some familial cases.

This heterogeneous disorder is characterized by progressive cessation of the ovarian function with temporary or intermittent amenorrhea associated with elevated serum FSH concentration and low AMH dosage. Low serum AMH dosage is able to detect a diminished ovarian pool occurring before the onset of FSH elevation and the ultimate deficiency leading to amenorrhea.

POI causes infertility and a poor ovarian response in IVF stimulations, and it has important health consequences for affected patients, including psychological distress, infertility, osteoporosis, autoimmune disorders, ischaemic heart disease.

Although the cause of POI remains unknown in about 80% of the cases, several mechanisms have been proposed to explain ovarian dysfunction. Currently, a wide spectrum of causes has been linked to POI, including genetic, autoimmune, infectious, or iatrogenic ones.

Genetic causes are highly heterogeneous and might explain at least some of the sporadic idiopathic cases, which comprise 50-90% of cases. Ten to fifteen percent of cases are X-linked abnormalities, mainly Turner Syndrome (45,X) or X structural abnormalities such as X deletions, X inversions, isochromosomes or X-autosome translocations. Also fragile X mental retardation 1 (FMR1) gene permutation (defined as having 55 to 200 CGG repeats in the 5' untranslated region of the gene) is another frequent genetic etiology.

Irrespectively, the majority of cases remains idiopathic, and identifying precise causative genes for POI has been challenging.

Conditions

  • Primary Ovarian Insufficiency

Sponsors & Collaborators

  • Ospedale Policlinico San Martino

    lead OTHER

Principal Investigators

  • Paola Scaruffi · Ospedale San Martino

  • Paola Anserini · Ospedale San Martino

Eligibility

Min Age
15 Years
Max Age
38 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-01-31
Primary Completion
2030-12-31
Completion
2030-12-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05327283 on ClinicalTrials.gov