[Drug treatment of postmenopausal osteoporosis. What's New in 2006].
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Absorptiometry, Photon↗
Biomedical subjects
Sophie Christin-Maitre
Publications and source records attributed to Sophie Christin-Maitre.
Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.
BACKGROUND AND OBJECTIVE: Mutations in bone morphogenic protein 15 (BMP15) and growth/differentiation factor 9 (GDF9) lead to altered fertility in animal models. In the human, a heterozygous point mutation of BMP15 has been associated with premature ovarian failure (POF). SUBJECT AND METHODS: We have directly sequenced both genes in a cohort of 203 POF patients presenting with primary or secondary amenorrhea and high FSH levels and in a control population including 54 women with regular menstrual cycles who had at least one child. RESULTS: We have identified several heterozygous variants. One alteration in GDF9 (S186Y) and one in BMP15 (L148P) may have pathogenic effects as both positions are conserved in vertebrate species, ranging from the chicken to mammals. These variants were absent in the control samples. We also found synonymous and neutral substitutions. CONCLUSIONS: We propose that although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in POF.
Adult↗
[What is menopause?].
Menopause is a natural phenomenon consisting in follicles atresia and decrease in ovarian hormonal secretions. The mean age of menopause is 51 years. It is known that follicles atresia is partially explained by genetics factors. During this period, we observe hormonal variations. The most important of them are an elevation of FSH level, a decrease in estrogens. We also note a variation of androgens secretion. Hypo-oestrogenia induces various clinical symptoms. Some of them occur early in menopause (climateric syndrom), others occur later (osteoporosis, cardiovascular diseases).
Age of Onset↗
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
Recently the molecular basis of the blepharophimosis-ptosis-epicanthus inversus-syndrome (BPES), an autosomal dominant developmental disorder of the eyelids and ovary, was elucidated. This syndromic form of premature ovarian failure (POF) is caused by mutations in the gene encoding the forkhead transcription factor FOXL2. In this manuscript we review the clinical features of BPES, its molecular basis, the structural and functional characteristics of the FOXL2 gene and protein, and known animal models.
Animals↗
Fetal loss associated with excess thyroid hormone exposure.
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Abortion, Spontaneous↗
Rationale, design and methods of the CASHMERE study.
Carotid intima-media thickness (IMT) measurement is a noninvasive method used for quantification of early stage of atherosclerosis. Data suggest that the combination of statin and hormone replacement therapy (HRT) might be useful in reducing the early progression of atherosclerosis in postmenopausal women. The main aim of the study is to compare the effects of 12-month therapy with atorvastatin (80 mg/day), HRT (oral 17beta-estradiol 1 or 2 mg/day, plus cyclic dydrogesterone 10 mg) alone and their combination vs. placebo on the progression of carotid IMT by using a high-definition echotracking device. The secondary objectives are to assess the effects of the treatments vs. placebo on arterial stiffness, lipid profile and C-reactive protein. The CASHMERE trial is an European randomized study with a 2 x 2-factorial design, double blinded for atorvastatin and prospective randomized, open blinded endpoint evaluation (PROBE) method applied to HRT. The investigators can adjust the dose of estradiol at any time during follow-up if necessary. A total of 800 postmenopausal women with mild hypercholesterolemia and with no previous history of cardiovascular disease will be included and followed up by their physicians [general practitioners (GPs) or gynecologists] for 1 year. The CASHMERE trial is the first randomized clinical trial to examine the effects of a statin alone or combined with HRT on the structure and the function of carotid artery as early markers of atherosclerosis in postmenopausal women with mild hypercholesterolemia. The results are expected for 2007.
Aged↗
Influence of endogenous oestrogens on QT interval duration.
AIMS: Women have a longer QT interval and a greater incidence of torsades de pointes than men. It has been suggested that oestrogens may influence the duration of cardiac repolarization. We thus investigated the influence of oestradiol (E2) on ventricular repolarization within the physiological concentration range of this hormone. METHODS AND RESULTS: We studied QT interval duration in 21 healthy women aged 18 to 35 years with regular menstrual cycle (mean duration: 29+/-1 days) during two periods associated with a wide range of oestradiol plasma levels: low level during menses (105+/-34 pmol/l) and high level during the pre-ovulatory phase (750+/-277 pmol/l). We used heart rate-independent assessment of QT. QT-RR pairs were measured over a wide range of RR intervals obtained at rest and during a sub-maximal exercise test. Using a monoexponential nonlinear curve fitting for the QT-RR relation, the QT(1000 ms)during nadir and peak oestradiol periods was then determined for each subject. QT(1000 ms)interval was not different between both study periods: 382.1+/-18.4 ms at peak versus 382.2+/-19.4 ms at nadir oestradiol level (P=0.98). CONCLUSION: No significant change in QT interval duration was observed within the large range of physiological E2 variations found during the menstrual cycle.
Adolescent↗
[Ovary genes and molecular pathology].
In the ovary, primordial follicles have to pass different stages in order to become preovulatory follicles. In the past few years, new genes and therefore new proteins have been recognized as major players in folliculogenesis. Atm, kit ligand and its receptor c-kit are necessary for the maintenance of ovarian follicle pool. GDF-9, BMP15, originating from the oocyte play a major role in early folliculogenesis. Pro and antiapoptotic proteins such as Bax and Bcl2 complete in granulosa cells, in order to maintain or not the follicle alive. FSH receptor is necessary for final follicular maturation, from the preantral stage and beyond. LH receptor is necessary for follicle ovulation. However, new genes and their regulation need to be identified as many ovarian diseases such as premature ovarian failure are not yet clarified.
Animals↗