TY - JOUR
T1 - Inheritance in idiopathic premature ovarian failure
T2 - Analysis of 71 cases
AU - Vegetti, Walter
AU - Tibiletti, Maria Grazia
AU - Testa, Giovanna
AU - De Yankowski, Luciana Lauretis
AU - Alagna, Federica
AU - Castoldi, Elena
AU - Taborelli, Monica
AU - Motta, Tiziano
AU - Bolis, Pier Francesco
AU - Dalprà, Leda
AU - Crosignani, Pier Giorgio
PY - 1998
Y1 - 1998
N2 - Premature ovarian failure is defined as cessation of ovarian function under the age of 40 years and affects ~ 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.
AB - Premature ovarian failure is defined as cessation of ovarian function under the age of 40 years and affects ~ 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.
KW - Familial
KW - Idiopathic
KW - Ovarian failure
KW - Premature
KW - Reproductive risk
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M3 - Article
C2 - 9740426
AN - SCOPUS:0031825999
VL - 13
SP - 1796
EP - 1800
JO - Human Reproduction
JF - Human Reproduction
SN - 0268-1161
IS - 7
ER -