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Endocr Rev. 2016 Dec;37(6):609-635. Epub 2016 Oct 3.

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.

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Murdoch Children's Research Institute (E.J.T., S.R.G., A.H.S.), Royal Children's Hospital, Melbourne, VIC 3052 Australia; Department of Paediatrics (E.J.T., S.R.G., A.H.S.), University of Melbourne, Melbourne, VIC 3010, Australia; Department of Paediatric and Adolescent Gynaecology (S.R.G.), Royal Children's Hospital, Melbourne, VIC 3052, Australia; Assistance Publique Hôpitaux de Paris, (A.B., P.T.), IE3M, Université Pierre et Marie Curie, Paris 6 University, Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et des Pathologies Gynécologiques Rares, Pitié-Salpêtrière Hospital, Université Pierre et Marie Curie, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale (A.B., P.T.), 75654 Paris, France.


Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40 and characterized by amenorrhea (primary or secondary) with raised gonadotropins and low estradiol. POI affects up to one in 100 females, including one in 1000 before the age of 30. Substantial evidence suggests a genetic basis for POI; however, the majority of cases remain unexplained, indicating that genes likely to be associated with this condition are yet to be discovered. This review discusses the current knowledge of the genetic basis of POI. We highlight genes typically known to cause syndromic POI that can be responsible for isolated POI. The role of mouse models in understanding POI pathogenesis is discussed, and a thorough list of candidate POI genes is provided. Identifying a genetic basis for POI has multiple advantages, such as enabling the identification of presymptomatic family members who can be offered counseling and cryopreservation of eggs before depletion, enabling personalized treatment based on the cause of an individual's condition, and providing better understanding of disease mechanisms that ultimately aid the development of improved treatments.

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