ID

45746

Beschrijving

Principal Investigator: Richard K. Wilson, PhD, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA MeSH: Infertility, Female https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001174 Premature ovarian failure, or primary ovarian insufficiency (POI) is a phenotype of diminished or absent ovarian function occurring in 1-2% of reproductive aged women. Most cases occur spontaneously. Evaluation of the gametes in women with POI is difficult and invasive. Practitioners must often rely on indirect biomarkers of ovarian function and oocyte health, making it difficult to identify patients who may benefit from therapies allowing them to achieve pregnancy utilizing their own oocytes. This study will generate exome sequences from POI patients in an effort to elucidate the causes of unexplained POI and to better understand the normal processes of ovarian aging. A better understanding of the genetics of ovarian function may lead to new non-invasive tools for managing women's reproductive health, and direct better use of existing biomarkers in diagnosis, screening and predicting clinical outcomes.

Link

dbGaP-study=phs001174

Trefwoorden

Versies (1)

1. 02-06-23 02-06-23 - Chiara Middel

Houder van rechten

Richard K. Wilson, PhD, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA

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2 juni 2023

DOI

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