P35. A systematic review of monogenic gene-disease relationships in human female infertility and differences in sex development

Annelore Van Der Kelen, Özlem Okutman, Elodie Javey, Munevver Serdarogullari, Charlotte Janssens, Manjusha Ghosh, Bart Dequeker, Florence Perold, Claire Kastner, Emmanuelle kieffer, Ingrid Segers, Alexander Gheldof, Karen Sermon, Willem Verpoest, Stéphane Viville, Frederik Jan Hes

Research output: Unpublished contribution to conferencePoster


High-throughput sequencing methods have led to the identification of an ever-increasing number of
gene variants in the fields of both male and female infertility. The increasing number of identified
genes allows an accurate diagnosis for previously idiopathic cases of female infertility and more
appropriate patient care. However, robust evidence of the gene-disease relationships (GDR) allowing
the proper translation to clinical application is still missing.
Objective and rationale
An evidence-based curation of genes involved in female infertility and differences in sex
development (DSD) would significantly improve diagnostic performance and genetic research. We
therefore performed a systematic review to summarize current knowledge and assess the available
Search methods
PRISMA guidelines were applied to curate all available information from PubMed and Web of Science
on genetics of human female infertility and DSD up to 01/11/2021. The evidence that an identified
phenotype is caused by a specific gene was assessed according to a standardized scoring system. A
final score (no evidence, limited, moderate, strong, or definitive) was assigned to every GDR.
A total of 45,271 publications were identified, of which 1,078 were selected for gene and variant
extraction. We have identified 395 genes and validated 466 GDRs covering all reported monogenic
Original languageEnglish
Number of pages1
Publication statusPublished - 17 Mar 2023
Event23th Annual BeSHG meeting: To DNA and beyond - Dôme, Charleroi, Belgium
Duration: 17 Mar 202317 Mar 2023


Conference23th Annual BeSHG meeting
Internet address

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