The idiopathic forms of premature menopause and early menopause show the same genetic pattern

Tibiletti, Maria Grazia; Testa, Giovanna; Vegetti, Walter; Alagna, Federica; Taborelli, Monica; Dalprà, Leda; Bolis, Pierfrancesco; Crosignani, Pier Giorgio

doi:10.1093/humrep/14.11.2731

Cited by 69 publications

(34 citation statements)

References 14 publications

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“…However, this does notexclude the interest in searching other clinical POF cases within the family or relatives who presented early menopause, between 40 and 45 years. Indeed, some studies suggest that POF and early menopause show the same genetic features and that these conditions may be a variable expression of the same genetic disease (29,30).…”

Section: Discussionmentioning

confidence: 99%

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

Bachelot

Rouxel²,

Massin³

et al. 2009

European Journal of Endocrinology

134

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Objective: Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis. Design and methods: We performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center. Results: Seventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1. Conclusion: A genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.

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Section: Discussionmentioning

confidence: 99%

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

Bachelot

Rouxel²,

Massin³

et al. 2009

European Journal of Endocrinology

134

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“…[23][24][25] In our study, limiting natural menopause, 1.1% of females reported to menopause <40 years, same as former studies, and they had significantly higher risk of death than those reported to menopause 45-49 years. A wide spectrum of pathogenic mechanisms may lead to the development of POF including chromosomal, 26 genetic, 27,28 autoimmune, 29,30 metabolic, 31 infectious, [32][33][34] and iatrogenic causes. 35,36 It may result in the higher mortality on early menopausal biased reporting of age at menopause unlikely.…”

Section: Femalesmentioning

confidence: 99%

Age at Menopause and Mortality in Japan: the Jichi Medical School Cohort Study

Amagai

Ishikawa

Gotoh

et al. 2006

Journal of Epidemiology

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Communications. The people who moved out of the communities during the observation period were followed up until the date of the emigration. Data on emigration of the study subjects were obtained every year from their municipal governments.Age at menopause was categorized into <40 years, 40-44 years, 45-49 years, 50-54 years, and 55+ years. The reference group was females who were 45-49 years at menopause.Statistical analysis was performed using the SPSS ® software version 11.0. Descriptive parameters are shown as mean, standard deviation or proportion (%). We compared characteristics between the groups by one-way analyses of variance or the chisquare tests. Cox's proportional hazard models were used to calculate hazard ratios of mortality for age at menopause after adjusting for age, SBP, serum total cholesterol level, HDL cholesterol level, history of diabetes mellitus, BMI, smoking habits, alcohol drinking habits, marital status, study area, and type of menopause, which were considered to be potential confounding factors. Among the potential confounding factors that we obtained as the baseline data about blood pressure, we used SBP only in the multivariate analyses to avoid the co-linearity.This study was approved by the Institutional Review Board of Jichi Medical School for ethical issues.

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“…This is supported by the observation that women with early menopause and POF are found within the same families, suggesting a genetic relationship between early menopause and POF (15,21).…”

mentioning

confidence: 52%

Age at natural menopause is not linked with the follicle-stimulating hormone receptor region: a sib-pair study

Kok

Asselt

Peeters

et al. 2004

Fertility and Sterility

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Objective: Studies have shown that age at natural menopause is heritable. Mutations in the FSH-receptor have been identified in women with premature ovarian failure (POF) and the FSH-receptor gene may, therefore, be considered a candidate gene for (early) menopausal age. This study investigates whether there is linkage between genetic markers in the FSH-receptor region and (early) age at menopause using a sib-pair design. Design: Sib-pair based linkage analysis. Setting: Sister pairs and their first-degree family members from The Netherlands. Patient(s):The inclusion criteria for a family were natural menopause in upper or lower tail of the distribution of menopausal age in at least two sisters. A total of 126 families with at least one sib-pair were included in this study. Six polymorphic markers encompassing the FSH-receptor gene were genotyped. Intervention(s): None. Main Outcome Measure(s): Single point and multipoint logarithm of the odds (LOD) scores. Result(s):None of the markers showed evidence in favor of linkage with overall age at natural menopause or early age at natural menopause. Conclusion(s):Possibly, age at natural menopause in the more or less normal range is not part of the spectrum of phenotypes determined by mutations in the FSH-receptor gene. Alternatively, our results might be explained by genetic heterogeneity in the left tail of the distribution of menopausal age. This can limit the chance of finding a genetic locus, especially if this factor has a modest contribution to the phenotype. (Fertil Steril 2004;81:611-6.

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The idiopathic forms of premature menopause and early menopause show the same genetic pattern

Cited by 69 publications

References 14 publications

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

Age at Menopause and Mortality in Japan: the Jichi Medical School Cohort Study

Age at natural menopause is not linked with the follicle-stimulating hormone receptor region: a sib-pair study

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