Inheritance in idiopathic premature ovarian failure: analysis of 71 cases

Premature ovarian failure is defined as cessation of ovarian function underthe age of 40 years and affects approximately 1% of women in the generalpopulation. The aetiology of this disorder is still unknown in most cases.Although there have been some reports of familial premature ovarianfailure, very little is known about the incidence and inheritance patternof its idiopathic form. The aims of this study were to investigate theincidence and inheritance pattern of familial premature ovarian failure ina homogeneous group of patients with premature idiopathic menopause and toidentify possible clinical differences between patients with the familialand the sporadic form of premature ovarian failure. A total of 71 womenwere recruited into the study. Clinical assessments and genetic counsellingshowed that 22 (31%) patients had familial premature ovarian failure, thishigh incidence strongly suggesting that the disorder is a recognizableheritable entity. There was a statistically significant (P < 0.05)difference in the median age of precocious menopause in patients withsporadic and familial premature ovarian failure (31.0 and 37.5 years of agein the two groups, respectively). Pedigree analysis strongly suggests theexistence of a familial pattern of premature ovarian failure with adominant maternal and/or paternal transmission and incomplete penetrance.In the presence of familial history of premature ovarian failure,reproductive counselling is recommended.