Oral Presentation The Joint Annual Scientific Meetings of the Endocrine Society of Australia and the Society for Reproductive Biology 2017

The genetics of premature ovarian insufficiency (#67)

Andrew Sinclair 1
  1. Murdoch Childrens Research Institute, Parkville, Vic, Australia

Infertility poses significant physical, mental and economic health burdens. 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. Recognized causes include dysfunction secondary to medical interventions such as ovarian surgery or cytotoxic cancer therapy, metabolic and storage disorders, infections, chromosomal anomalies and autoimmune diseases. POI affects up to 1 in 100 females, including 1 in 1000 before the age of 30. Substantial evidence suggests a genetic basis to POI, however, the majority of cases remain unexplained indicating there are likely genes associated with this condition yet to be discovered. Our current knowledge of the genetic basis of POI will be overviewed, first describing the processes necessary for female ovarian development and function, then describing the many genes implicated in POI. The focus will be on genes typically known to cause syndromic POI that can be responsible for isolated POI. Identifying a genetic basis for POI has multiple advantages such as enabling the identification of pre-symptomatic family members who can be offered counselling 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 which ultimately aid the development of improved treatments.