Premature ovarian failure

Secondary amenorrhoea with elevated gonadotrophins occurring under the age of 40 (premature ovarian failure (POF)), and at the age between 41 and 44 y ears (early menopause (EM)), respectively, affects 1-2% and 5% of women in the general population. Objective of this study was to evaluate the prevale nce of familial cases of POF and EM and to assess the clinical and genetic characteristics of these patients. One hundred and sixty women with idiopat hic secondary amenorrhoea before the age of 45 and serum follicle-stimulati ng hormone (FSH) levels greater than or equal to 40 IU/l were included in t he study. Tests performed on patients included complete medical history, pe digree's analysis, clinical pelvic examination, gonadotrophins and thyroid assessment, chromosomal analysis. The 160 patients included in the study sh owed idiopathic POF (n = 130) or EM (n = 30). Following pedigree assessment , we were able to identify an incidence of familial cases of 28.5% in the P OF group (n = 37) and of 50% in the EM group (n = 15). POF and EM condition were often present in the same family. There were no differences between P OF and EM patients and between familial and sporadic cases regarding age at menarche, personal history, gynaecological history, weight, height and die t habits. There was a statistically significant difference between sporadic and familial cases in age at POF onset: 32.0 +/- 7.3 years (12-40) compare d to 35.0 +/- 5.8 (18-40), respectively (P < 0.05). The POF and EM families identified showed two or more affected females and transmission through ei ther maternal or paternal relatives; in four families both maternal and pat ernal transmission was observed. This study suggests that idiopathic POF an d EM conditions, differing only in age of menopause onset, may represent a variable expression of the same genetic disease. The different age of menop ause onset in these patients may be explained by genetic heterogeneity and/ or by different environmental factors. Our results indicate a high rate of familial transmission of the condition. Pedigree's analysis suggests an aut osomal or an X-linked dominant sex-limited pattern of inheritance for POF a nd EM. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.