Genes and premature ovarian failure

Premature ovarian failure (POF) is an heterogeneous syndrome. Among genetic causes, X monosomy as in Turner syndrome or X deletions and translocations are known to be responsible for POF. The genes involved in ovarian functio n, located on the X chromosome are still unknown. On the other hand, autoso mal abnormalities have been identified in POF patients such as mutations of the FSH gene, the LH and FSH receptor genes, chromosome 3q containing the blepharophimosis gene, the ATM gene (Ataxia-telangiectasia gene). Mutations in the AIRE gene (responsible for APECED syndrome) can involve ovarian ins ufficiency. It is likely that studies on the function of the protein AIRE m ight improve our knowledge on follicular development. Furthermore, differen t mouse models of ovarian failure such as mouse lacking connexins or mice l acking GDF9 (growth derived factor 9), might increase our knowledge of ovar ian failure. In the future, a better knowledge of the cellular and biochemi cal components involved in folliculogenesis and apoptosis should elucidate the mechanisms of POF. (C) 1998 Published by Elsevier Science Ireland Ltd. All rights reserved.