Searchable abstracts of presentations at key conferences in endocrinology

ea0021s9.1 | Mechanisms and management of ovarian failure | SFEBES2009

Genetic mechanisms underlying ovarian insufficiency

McElreavey Ken

Primary ovarian insufficiency (POI) describes a continuum of impaired ovarian function that includes both primary amenorrhea and premature menopause. A significant minority of the cases are familial suggesting a genetic basis for POI. Several genetic causes of syndromic and non-syndromic forms of POI have been identified. Syndromic forms are associated with monosomy X, rearrangements of Xq and mutations in the APECED, FOXL2, EIF2B, ATM and GALT</...