Inheritance in idiopathic premature ovarian failure: Analysis of 71 cases

Walter Vegetti, Maria Grazia Tibiletti, Giovanna Testa, Luciana Lauretis De Yankowski, Federica Alagna, Elena Castoldi, Monica Taborelli, Tiziano Motta, Pier Francesco Bolis, Leda Dalprà, Pier Giorgio Crosignani

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1796-1800
Number of pages5
JournalHuman Reproduction
Volume13
Issue number7
Publication statusPublished - 1998

Keywords

  • Familial
  • Idiopathic
  • Ovarian failure
  • Premature
  • Reproductive risk

ASJC Scopus subject areas

  • Developmental Biology
  • Physiology
  • Obstetrics and Gynaecology
  • Reproductive Medicine

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  • Cite this

    Vegetti, W., Tibiletti, M. G., Testa, G., De Yankowski, L. L., Alagna, F., Castoldi, E., Taborelli, M., Motta, T., Bolis, P. F., Dalprà, L., & Crosignani, P. G. (1998). Inheritance in idiopathic premature ovarian failure: Analysis of 71 cases. Human Reproduction, 13(7), 1796-1800.