Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?

The incidence of familial cases of premature ovarian failure varies from 4 to 31%. Recall bias may explain part of the variance, Thorough evaluation o f alleged affected relatives showed a lower incidence than the original fam ily history suggested. In the present study the incidence of familial cases was 12.7%. Pedigree studies on affected families showed a mode of inherita nce suggestive of autosomal dominant sex-limited transmission or X-linked i nheritance with incomplete penetrance. An adequate family history can disti nguish between familial or sporadic premature ovarian failure. The risk of female relatives developing premature ovarian failure may be as high as 100 % in familial premature ovarian failure, or as low as 1% in sporadic cases.