Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.

ABSTRACT:

Study question

Is it possible to find the cause of primary ovarian insufficiency (POI) in more women by extensive screening?

Summary answer

Adding next generation sequencing techniques including a POI-associated gene panel, extended whole exome sequencing data, as well as specific autoantibody assays to the recommended diagnostic investigations increased the determination of a potential etiological diagnosis of POI from 11% to 41%.

What is known already

POI affects ∼1% of women. Clinical presentations and pathogenic mechanisms are heterogeneous and include genetic, autoimmune, and environmental factors, but the underlying etiology remains unknown in the majority of cases.

Study design, size, duration

Prospective cross-sectional study of 100 women with newly dia

SUBMITTER: Vogt EC 

PROVIDER: S-EPMC10767963 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature