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      Primary ovarian insufficiency: an update

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          Abstract

          Primary ovarian insufficiency is a condition that represents impaired ovarian function on a continuum with intermittent ovulation. This condition commonly leads to premature menopause, defined as cessation of ovulation prior to the age of 40 years. Because there are potential immediate and long-term consequences of hypoestrogenism, a timely diagnosis is invaluable. This comprehensive review will discuss identifiable causes for primary ovarian insufficiency, including genetic disorders and metabolic abnormalities, as well as review current strategies for diagnosis, evaluation, and management of women with this condition.

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          Clinical practice. Primary ovarian insufficiency.

          Lawrence Nelson (2009)
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            CGG repeat in the FMR1 gene: size matters.

            J Levenga, Anneke Oostra, R Willemsen (2011)
            The FMR1 gene contains a CGG repeat present in the 5'-untranslated region which can be unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In patients with fragile X syndrome (FXS), a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the promoter region, which is accompanied by silencing of the FMR1 gene. The absence of FMR1 protein, FMRP, seen in FM is the cause of the mental retardation in patients with FXS. The premutation (PM) is defined as 55-200 CGGs. Female PM carriers are at risk of developing primary ovarian insufficiency. Elderly PM carriers might develop a progressive neurodegenerative disorder called fragile X-associated tremor/ataxia syndrome (FXTAS). Although arising from the mutations in the same gene, distinct mechanisms lead to FXS (absence of FMRP), FXTAS (toxic RNA gain-of-function) and FXPOI. The pathogenic mechanisms thought to underlie these disorders are discussed. This review gives insight on the implications of all possible repeat length categories seen in fragile X families. 2011 John Wiley & Sons A/S.
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              The normal menopause transition.

              D. BRAMBILLA, Andrew T. M. McKinlay, J Posner (1991)
              This paper presents analyses from perhaps the largest and most comprehensive prospective cohort study of mid-aged women--the Massachusetts Women's Health Study (MWHS)--with numbers sufficient to provide, for the first time, stable estimates of parameters in the normal menopause transition. The three questions addressed in this analysis are (i) what are the natural menopause transitions and when do they occur, (ii) what factors affect these transitions and (iii) what signs and/or symptoms accompany these transitions? The data were obtained primarily from 5 years of follow-up of 2570 women in Massachusetts who were aged 45-55 years as of January 1, 1982. An initial baseline cross-sectional survey (T0) yielded a total of 8050 completed responses with an overall response rate of 77%. From this cross-sectional sample a cohort of approximately 2570 women was identified, consisting of women who had menstruated in the preceding 3 months and who had not undergone removal of the uterus and/or ovaries. Prospective study of the cohort consisted of six telephone contacts (T1-T6) at 9-month intervals with excellent retention of the respondents. A subset of the full cohort was defined that consisted of women who were premenopausal (rather than perimenopausal) at baseline (T0) (n = 1178). Confirming prior reports, the age at natural menopause occurred at 51.3 years with a highly significant median difference (1.8 years) between current smokers and non-smokers. The new analyses reported here on median age at inception of perimenopause (47.5 years) and factors affecting it are consistent with findings for age at last menstrual period, particularly the overwhelming effect of smoking. Smokers tend to have not only an earlier but also a shorter perimenopause. The length of the perimenopausal transition (estimated at nearly 4 years) has not been previously reported. Moreover, the highest rate of physician consultations is observed among those with longer perimenopause transitions. The relationship between menopause transitions and symptom reporting appears to be transitory, with reported rates showing an increase in the perimenopause and a compensatory decrease in the postmenopause. The implications of combined hormone replacement therapy for future research on menopause in industrial societies is discussed in relation to these findings.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Womens Health
                Journal ID (iso-abbrev): Int J Womens Health
                Journal ID (publisher-id): International Journal of Women’s Health
                Title: International Journal of Women's Health
                Publisher: Dove Medical Press
                ISSN (Electronic): 1179-1411
                Publication date Collection: 2014
                Publication date (Electronic): 20 February 2014
                Volume: 6
                Pages: 235-243
                Affiliations
                UH Case Medical Center, MacDonald Women’s Hospital, Department of Obstetrics and Gynecology, Case Western Reserve University School of Medicine, Department of Reproductive Biology, Cleveland, OH, USA
                Author notes
                Correspondence: James H Liu, University Hospital Case Medical Center, MacDonald Women’s Hospital, Case Western Reserve University, Dept of Obstetrics and Gynecology, Dept of Reproductive Biology, 11100 Euclid Ave, Cleveland, OH 44106-5034, USA, Email james.liu@ 123456uhhospitals.org
                Article
                Publisher ID: ijwh-6-235
                DOI: 10.2147/IJWH.S37636
                PMC ID: 3934663
                PubMed ID: 24591848
                SO-VID: d2c9be85-c54b-414b-a4dd-406024dfd606
                Copyright © © 2014 Cox and Liu. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License
                License:

                The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.

                History
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                Subject: Review

                ScienceOpen disciplines: Obstetrics & Gynecology
                Keywords: premature ovarian failure,premature menopause,ovarian dysfunction
                Data availability:
                ScienceOpen disciplines: Obstetrics & Gynecology
                Keywords: premature ovarian failure, premature menopause, ovarian dysfunction

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