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Human Reproduction, Vol. 14, No. 10, 2455-2459, October 1999
© 1999 European Society of Human Reproduction and Embryology

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

Y.M. van Kasteren1,5, R.D.L. Hundscheid2, A.P.T. Smits3, F.P.M. Cremers3, P. van Zonneveld4 and D.D.M. Braat2

1 Department of Obstetrics and Gynaecology, Medical Center Alkmaar, Wilhelminalaan 12, 1815 JD Alkmaar, 2 Department of Obstetrics and Gynaecology and 3 Department of Human Genetics, University Hospital Nijmegen, and 4 Department of Obstetrics and Gynaecology, University Hospital Utrecht, The Netherlands

The incidence of familial cases of premature ovarian failure varies from 4 to 31%. Recall bias may explain part of the variance. Thorough evaluation of alleged affected relatives showed a lower incidence than the original family history suggested. In the present study the incidence of familial cases was 12.7%. Pedigree studies on affected families showed a mode of inheritance suggestive of autosomal dominant sex-limited transmission or X-linked inheritance with incomplete penetrance. An adequate family history can distinguish 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.

Key words: familial/idiopathic premature ovarian failure/incidence/inheritance

5 To whom correspondence should be addressed


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