Inheritance in idiopathic premature ovarian failure: analysis of 71 cases

被引:114
作者
Vegetti, W
Tibiletti, MG
Testa, G
Yankowski, LD
Alagna, F
Castoldi, E
Taborelli, M
Motta, T
Bolis, PF
Dalpra, L
Crosignani, PG [1 ]
机构
[1] Univ Milan, Dept Obstet & Gynecol 1, I-20122 Milan, Italy
[2] Osped Circolo, Dept Clin & Biol Sci, Pathol Lab, Varese, Italy
[3] Univ Pavia, Dept Clin & Biol Sci, Obstet & Gynaecol Unit, Varese, Italy
[4] Univ Milan, Dept Biol & Genet Med Sci, I-20122 Milan, Italy
关键词
familial; idiopathic; premature ovarian failure; reproductive risk;
D O I
10.1093/humrep/13.7.1796
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Premature ovarian failure is defined as cessation of ovarian function under the age of 40 years and affects similar to 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.
引用
收藏
页码:1796 / 1800
页数:5
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