Author/Authors :
Venturella, Roberta Department of Obstetrics and Gynaecology- Magna Graecia University of Catanzaro, Catanzaro, Italy , De Vivo, Valentino Department of Neuroscience - Reproductive Sciences and Dentistry - School of Medicine - University of Naples Federico II, Naples, Italy , Carlea, Annunziata Department of Neuroscience - Reproductive Sciences and Dentistry - School of Medicine - University of Naples Federico II, Naples, Italy , D’Alessandro, Pietro Department of Neuroscience - Reproductive Sciences and Dentistry - School of Medicine - University of Naples Federico II, Naples, Italy , Saccone, Gabriele Department of Neuroscience - Reproductive Sciences and Dentistry - School of Medicine - University of Naples Federico II, Naples, Italy , Arduino, Bruno Department of Neuroscience - Reproductive Sciences and Dentistry - School of Medicine - University of Naples Federico II, Naples, Italy , Improda, Francesco Paolo Department of Neuroscience - Reproductive Sciences and Dentistry - School of Medicine - University of Naples Federico II, Naples, Italy , Lico, Daniela Department of Obstetrics and Gynaecology- Magna Graecia University of Catanzaro, Catanzaro, Italy , Rania, Erika Department of Obstetrics and Gynaecology- Magna Graecia University of Catanzaro, Catanzaro, Italy , De Marco, Carmela Department of Experimental and Clinical Medicine - Magna Graecia University of Catanzaro, Catanzaro, Italy , Viglietto, Giuseppe Department of Experimental and Clinical Medicine - Magna Graecia University of Catanzaro, Catanzaro, Italy , Zullo, Fulvio Department of Obstetrics and Gynaecology- Magna Graecia University of Catanzaro, Catanzaro, Italy
Abstract :
Several causes for primary ovarian insufficiency (POI) have been described, including iatrogenic and environmental
factor, viral infections, chronic disease as well as genetic alterations. The aim of this review was to collect all the genetic
mutations associated with non-syndromic POI. All studies, including gene screening, genome-wide study and assessing
genetic mutations associated with POI, were included and analyzed in this systematic review. Syndromic POI
and chromosomal abnormalities were not evaluated. Single gene perturbations, including genes on the X chromosome
(such as BMP15, PGRMC1 and FMR1) and genes on autosomal chromosomes (such as GDF9, FIGLA, NOBOX,
ESR1, FSHR and NANOS3) have a positive correlation with non-syndromic POI. Future strategies include linkage
analysis of families with multiple affected members, array comparative genomic hybridization (CGH) for analysis of
copy number variations, next generation sequencing technology and genome-wide data analysis. This review showed
variability of the genetic factors associated with POI. These findings may help future genetic screening studies on
large cohort of women.
