Human Reproduction, Vol 13, 1796-1800, Copyright © 1998 by Oxford University Press
W Vegetti, M Grazia Tibiletti, G Testa, Yankowski de Lauretis, F Alagna, E Castoldi, M Taborelli, T Motta, PF Bolis, L Dalpra and PG Crosignani
Premature ovarian failure is defined as cessation of ovarian function under
the age of 40 years and affects approximately 1% of women in the general
population. The aetiology of this disorder is still unknown in most cases.
Although there have been some reports of familial premature ovarian
failure, very little is known about the incidence and inheritance pattern
of its idiopathic form. The aims of this study were to investigate the
incidence and inheritance pattern of familial premature ovarian failure in
a homogeneous group of patients with premature idiopathic menopause and to
identify possible clinical differences between patients with the familial
and the sporadic form of premature ovarian failure. A total of 71 women
were recruited into the study. Clinical assessments and genetic counselling
showed that 22 (31%) patients had familial premature ovarian failure, this
high incidence strongly suggesting that the disorder is a recognizable
heritable entity. There was a statistically significant (P < 0.05)
difference in the median age of precocious menopause in patients with
sporadic and familial premature ovarian failure (31.0 and 37.5 years of age
in the two groups, respectively). Pedigree analysis strongly suggests the
existence of a familial pattern of premature ovarian failure with a
dominant maternal and/or paternal transmission and incomplete penetrance.
In the presence of familial history of premature ovarian failure,
reproductive counselling is recommended.
ARTICLES
Inheritance in idiopathic premature ovarian failure: analysis of 71 cases
First Department of Obstetrics and Gynaecology, University of Milan, Italy.
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