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Premature ovarian failure.

W Vegetti1, A Marozzi, E Manfredini

  • 1First Department of Obstetrics and Gynaecology, University of Milan, Via della Commenda 12, 20122, Milan, Italy.

Molecular and Cellular Endocrinology
|April 25, 2000
PubMed
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Premature ovarian failure (POF) and early menopause (EM) often have a genetic basis, with familial cases identified in 28.5% of POF and 50% of EM patients. This suggests POF and EM may be expressions of the same genetic condition.

Area of Science:

  • Reproductive Endocrinology
  • Human Genetics
  • Gynaecology

Background:

  • Premature ovarian failure (POF) and early menopause (EM) affect a significant percentage of women under 45.
  • These conditions are characterized by secondary amenorrhoea and elevated gonadotrophins.
  • Understanding the genetic basis and familial incidence is crucial for diagnosis and management.

Purpose of the Study:

  • To evaluate the prevalence of familial cases of POF and EM.
  • To assess the clinical and genetic characteristics of women diagnosed with POF or EM.
  • To investigate the inheritance patterns of these conditions.

Main Methods:

  • Study included 160 women with idiopathic secondary amenorrhoea before age 45 and FSH ≥ 40 IU/l.
  • Methods included medical history, pedigree analysis, pelvic examination, hormonal and thyroid assessments, and chromosomal analysis.

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  • Familial incidence was determined through pedigree assessment.

    • Main Results:

    • Familial cases were identified in 28.5% of POF patients (n=37) and 50% of EM patients (n=15).
    • POF and EM often occurred within the same family, suggesting a shared etiology.
    • Familial cases showed a statistically significant later age of onset for POF compared to sporadic cases (35.0 vs 32.0 years).

    Conclusions:

    • Idiopathic POF and EM may represent variable expressions of the same genetic disorder, differing primarily in age of onset.
    • A high rate of familial transmission is indicated, with inheritance patterns suggesting autosomal or X-linked dominant sex-limited inheritance.
    • Genetic heterogeneity and environmental factors may contribute to the variation in menopause onset age.