The diagnosis of premature ovarian failure (POF) for a 20-year-old woman is devastating and will impact on many areas of her life. She deserves prompt confirmation of the diagnosis and accurate, honest information about the condition including the chances of conception and long-term health issues. She should be offered investigation of aetiology, although this may be hard to establish, and assessment of associated medical conditions. Oestrogen replacement should be advised for long-term use until the normal age of menopause, and she should be fully counselled on the benefits and risks of hormone replacement and her options of which preparation to take. Long-term follow-up is needed, and this is likely to require multidisciplinary input, including that from a gynaecologist, clinical psychologist and fertility team. POF may not be the appropriate terminology for this condition. Ovarian function often fluctuates in young women with POF, who may continue to menstruate occasionally and even conceive spontaneously. In view of this unpredictability, 'premature ovarian insufficiency' is a better description of the condition and carries a less negative connotation than 'ovarian failure' which can cause great distress. We recommend that the condition is termed 'premature ovarian insufficiency' (Clinical Endocrinology 2008;68:499).
[Show abstract][Hide abstract] ABSTRACT: A later menopause has been associated with a decreased cardiovascular risk but with an increased risk for breast and endometrial cancer. The net effect on mortality is unclear. We determined the association of age at menopause with longevity and with the balance between cardiovascular and cancer mortality.
We analyzed data from a breast cancer screening cohort comprising 12,134 postmenopausal women followed for an average of 17 years. We used Cox proportional hazards models and life tables to calculate the life expectancy of an average Dutch woman at age 50.
During 204,024 person-years, there were 2607 deaths, of which 963 were due to cardiovascular diseases and 812 due to cancer. Ischemic heart disease risk decreased with a later menopause (hazard ratio [HR] = 0.98 per year; 95% confidence interval = 0.96-0.99), but the risk of fatal uterine or ovarian cancer increased (1.07 per year; 1.01-1.12). A later menopause was associated with longer overall survival; HR for total mortality was 0.98 per year (0.97-0.99). Life expectancy in women with menopause after age 55 was 2.0 years longer than those with menopause before age 40. Adjustment for potential confounders did not materially change the results.
Age-adjusted mortality is reduced 2% with each increasing year of age at menopause. In particular, ischemic heart disease mortality is 2% lower. Although the risk of death from uterine or ovarian cancer is increased by 5%, the net effect of a later menopause is an increased lifespan.
[Show abstract][Hide abstract] ABSTRACT: There has been some confusion among women and health professionals since the publication of the Women's Health Initiative and Million Women studies about the management of premature ovarian failure (POF). Both studies were undertaken in women aged 50 and over, and cannot be extrapolated to their younger counterparts, who would normally be producing their endogenous estrogen, since they have functioning ovaries. Estrogen-based replacement therapy is the main stay of treatment for women with POF and is recommended at least until the average age of natural menopause (52 years in the UK). This view is endorsed by regulatory bodies such as the Committee on Safety of Medicines (now the Commission on Human Medicines) in the UK. No evidence shows that estrogen replacement increases the risk of breast cancer to a level greater than that found in normally menstruating women, and women with POF do not need to start mammographic screening early unless other risk factors are present, such as family history.
Menopause International 04/2007; 13(1):44-5. DOI:10.1258/175404507780456719
[Show abstract][Hide abstract] ABSTRACT: The full mutation leading to the fragile X syndrome is a dynamic trinucleotide repeat located in the 5′ untranslated region of the FMR1 gene. The premutation allele contains approximately 60 to 199 repeats, is unstable, and originally not considered detrimental; that is, there did not appear to be a phenotype consequence of the long repeat tract. However, in the late 1980s and early 1990s, preliminary findings suggested that nonimpaired heterozygotes were at risk of early menopause and increased rates of twinning, both indications of ovarian failure. Once premutation carriers could be distinguished from full mutation carriers, this phenotype was found to be restricted to premutation carriers only. Based on the recent studies reviewed here, approximately 21% of premutation carriers have premature ovarian failure (POF) compared to only 1% in the general population, or a relative risk of 21. Moreover, among women with idiopathic sporadic or the more rare form of familial POF, approximately 2% and 14%, respectively, carry the premutation. To date, data supporting increased twinning rates are conflicting and need to be resolved. Neither the underlying cellular pathophysiology of POF caused by the premutation allele nor molecular mechanism underlying the presence of the long repeat tract of the premutation allele is understood. Irrespective, women who carry the premutation allele should have not only genetic counseling but also fertility counseling to ensure that they reach their goals for reproduction. Am. J. Med. Genet. (Semin. Med. Genet.) 97:189–194, 2000. 2000 Wiley-Liss, Inc.
American Journal of Medical Genetics 08/2000; 97(3):189 - 194. DOI:10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J · 3.23 Impact Factor
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