title: Genetic aspects of premature ovarian failure: a literature review.
abstract: BACKGROUND
  The diagnosis of premature ovarian failure (POF) is based on the finding of amenorrhea before the age of 40 years associated with follicle-stimulating hormone levels in the menopausal range. It is a heterogeneous disorder affecting approximately 1% of women <40 years, 1:10,000 women by age 20 years and 1:1,000 women by age 30 years. POF is generally characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea).
  
  
  METHODS
  Review of significant articles regarding genetic causes that are associated with POF.
  
  
  RESULTS
  Heterogeneity of POF is reflected by a variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. Changes at a single autosomal locus and many X-linked loci have been implicated in women with POF. X chromosome abnormalities (e.g., Turner syndrome) represent the major cause of primary amenorrhea associated with ovarian dysgenesis. Many genes have been involved in POF development, among them BMP15, FMR1, FMR2, LHR, FSHR, INHA, FOXL2, FOXO3, ERα, SF1, ERβ and CYP19A1 genes.
  
  
  CONCLUSIONS
  Despite the description of several candidate genes, the cause of POF remains undetermined in the vast majority of cases.
authors.affiliation: Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, Santo André, SP, CEP 09060-650, Brazil.
authors.forename: Emerson Barchi
authors.initials: EB
authors.lastname: Cordts
authors.forename: Denise Maria
authors.initials: DM
authors.lastname: Christofolini
authors.forename: Aline Amaro
authors.initials: AA
authors.lastname: Dos Santos
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.forename: Caio Parente
authors.initials: CP
authors.lastname: Barbosa
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics; D004967:Estrogens / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D015321:Gene Rearrangement / Q000235:genetics; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D007265:Inhibins / Q000097:blood; D007986:Luteinizing Hormone / Q000097:blood; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics; D014314:Trisomy / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics
chemical_list: D004967:Estrogens; D007265:Inhibins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone