title: [Premature ovarian failures].
abstract: Premature ovarian failure (POF) is clinically suspected by amenorrhea and confirmed by an elevated FSH serum level above 40 mUI/L (even 20 mUI/L) twice, in a woman before the age of 40. Prevalence of POF is between 1 to 2% in women. In 90% of cases, no aetiology is identified. Obvious causes are chemotherapy, pelvic radiotherapy, ovarian surgery and diethylstilbestrol exposure in utero. A karyotype should be performed as Turner Syndrome is the most frequent genetic cause of POF. Some X abnormalities such as X deletion or X autosome translocation can be found. FMR1 pre-mutation (fragile X syndrome) should be searched for, even though no cases of mental retardation are known, in the family. Other genetic abnormalities can be suggested by associated symptoms (i.e.: FOXL2, SF1 mutations). Auto-immune aetiology can be suspected if other auto-immune features are present, however, there are no reliable auto-antibodies to confirm auto-immunity in POF. Treatment of POF is based on hormonal replacement therapy in order to avoid estrogen deficiency, suppress vasomotor symptoms and avoid bone loss as well as cardiovascular risk. Estrogens should be associated with progesterone or a progestin, at least up to the age of 51. Patients with POF should be informed that spontaneous pregnancies may occur (in 5% of cases). In case of desire of pregnancy, the patient should be oriented to a specialized unit for in vitro fertilization with oocyte donation. Psychological support is essential and should be part of the treatment. POF is associated with an increased risk of emotional distress and depression. No preventive treatment of POF is available so far.
authors.affiliation: Hôpital Saint-Antoine, endocrinologie de la reproduction, Centre des maladies endocriniennes rares de la croissance (CMERC), 75012 Paris, France.
authors.forename: Léopoldine
authors.initials: L
authors.lastname: Bricaire
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Laroche
authors.forename: Nathalie
authors.initials: N
authors.lastname: Bourcigaux
authors.forename: Bruno
authors.initials: B
authors.lastname: Donadille
authors.forename: Sophie
authors.initials: S
authors.lastname: Christin-Maitre
mesh_terms: D001327:Autoimmune Diseases / Q000150:complications; D041321:Chromosomes, Human, X; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000139:chemically induced / Q000235:genetics / Q000276:immunology / Q000628:therapy; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics