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 of alleged affected relatives showed a lower incidence than the original family history suggested. In the present study the incidence of familial cases...

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Bibliographic Details
Published in:Human reproduction (Oxford) 1999-10, Vol.14 (10), p.2455-2459
Main Authors: van Kasteren, Y.M., Hundscheid, R.D.L., Smits, A.P.T., Cremers, F.P.M., van Zonneveld, P., Braat, D.D.M.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
familial
Female
Female genital diseases
Gynecology. Andrology. Obstetrics
Humans
idiopathic premature ovarian failure
Incidence
inheritance
Medical sciences
Netherlands - epidemiology
Non tumoral diseases
Pedigree
Primary Ovarian Insufficiency - epidemiology
Primary Ovarian Insufficiency - genetics
Retrospective Studies
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Summary: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.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/14.10.2455