title: Genetics of premature ovarian failure.
abstract: Premature ovarian failure (POF) is defined as a primary ovarian insufficiency before the age of 40 years. It is characterized by a cessation of menstruation for at least 4 months associated with the elevation of serum follicle-stimulating hormone (FSH) concentration (FSH>40 IU/L). It affects approximately 1% of women under 40. Known causes of premature ovarian failure can be classified as genetic, autoimmune, environmental, iatrogenic (after chemotherapy, radiations, surgery) and idiopathic. It is estimated that up to 40% of POF can be attributed to genetic causes. Classification of genetic causes can be different. We present here review of genetic causes of POF based on classification : non-syndromic POF and syndromic causes of POF. The list of the candidate genes related to POF is still increasing. Elucidation of genetic determination of POF has a critical significance for identification the possible marker of POF or possible new kind of POF therapy.
authors.affiliation: Department of Gynecological Endocrinology, Poznan University of Medical Sciences, Poznan, Poland. blazejmeczekalski@yahoo.com
authors.forename: B
authors.initials: B
authors.lastname: Meczekalski
authors.forename: A
authors.initials: A
authors.lastname: Podfigurna-Stopa
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics
chemical_list: D005640:Follicle Stimulating Hormone