High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.
Raiane P CrespoThais P RochaLuciana R MontenegroMirian Yumie NishiAlexander Augusto de Lima JorgeGustavo Arantes Rosa MacielEdmund Chada BaracatAna Claudia L XavierBerenice Bilharinho de MendoncaLarissa G GomesPublished in: Journal of the Endocrine Society (2022)
Several rare variants in genes related to IR were identified in women with PCOS. Although IR is a common feature of PCOS, patients with extreme or atypical phenotype should be carefully evaluated to rule out monogenic conditions.