This report describes primary ovarian insufficiency (POI), previously called premature ovarian failure (POF). Primary ovarian insufficiency is a genetically heterogeneous disorder with multiple genes and mapped loci. A comprehensive list of POI subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below.
In several studies, Drosophila has been used to further characterize candidate genes for POI (or susceptibility to POI) identified in large-scale assessments in human.
[updated Mar. 2022 by FlyBase; FBrf0222196]
Primary ovarian insufficiency is a subclass of ovarian dysfunction in which the cause is within the ovary. In most cases, premature exhaustion of the resting pool of primordial follicles occurs. The main symptom is absence of regular menstrual cycles; the disorder usually leads to sterility (De Vos, et al., 2010; pubmed:20708256).
Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years (summary by Wang et al., 2014; pubmed:24597873). [from MIM:615724, 2021.11.14]
