118例原发闭经的染色体分析

１１８例原发闭经的染色体分析朱祖华，杨柳，高湘原发闭经是妇科常见症状之一，病因繁多，且文献报道原发闭经中１／３有染色体异常［１］。因此及时对患者作染色体检查是找出闭经原因和治疗的关键。现将我们近年来对１１８例原发闭经患者染色体分析报告如下。材料和方法...     

荆州地区56例原发闭经患者的细胞遗传学研究

目的对原发闭经患者进行细胞遗传学检查,探讨性染色体与原发闭经的关系。方法采用外周血淋巴细胞染色体培养技术进行染色体核型分析。结果 56例患者中共检出异常核型25例,异常率44.64%(25/56)。其中X染色体数目异常13例,结构异常5例,含Y染色体异常3例,常染色体异常4例。结论性染色体异常是引起原发闭经的一个重要因素,对原发闭经患者进行外周血染色体检查具有重要的临床意义。     

秦皇岛地区66例原发闭经患者的细胞遗传学分析

目的：探讨原发闭经与染色体异常的关系。方法：外周血细胞染色体培养，Ｇ显带，镜下核型分析。结果：６６例原发闭经患者中，共检出异常核型２３例，占３４.85%，余为正常核型，结论：染色体异常是原发闭经的主要原因之一，临床上应加强对此类患者的细胞遗传学检查，有利于该病的诊断治疗。     

390例闭经患者染色体核型分析及临床意义

目的分析原发和继发闭经患者的染色体异常情况并探讨其临床意义。方法对妇科门诊和住院确诊为原发和继发闭经患者,年龄13~40岁抽取外周血培养,制备染色体,采用G显带或显带分析。结果原发和继发闭经患者共390人,染色体核型分析结果60例异常占15.4%;原发闭经患者有133例,核型异常患者47例占12.1%;继发闭经患者257例,核型异常患者13例占3.33%。结论人类细胞染色体异常导致临床的原发闭经和继发闭经已占有较大比重,通过染色体核型分析有助于诊断原发性和继发闭经,并指导母亲下次怀孕时最好做产前诊断及优生筛查。     

77例原发闭经患者的染色体分析

本文对77例原发性闭经患者进行了染色体分析，共检出正常核型57例占74％，异常核型，20例占26％，着重讨论了Turner综合征的X染色体的缺失，等臂染色体对性腺发育的影响，说明染色体异常是原发闭经的原因之一。     

绍兴地区126例原发闭经患者的细胞遗传学分析

目的分析原发闭经患者细胞遗传学的检查结果并协助其临床诊断。方法常规外周血染色体制片及核型分析。结果在126例原发闭经患者中共检出染色体异常43例,异常检出率为34．1％,其中涉及到X染色体数目及结构异常33例,含Y染色体9例,常染色体结构异常1例,各占总染色体异常病例的76．7％、21．0％和2．3％。结论染色体异常是导致原发闭经的重要原因之一,对此类患者进行临床诊断和治疗时进行细胞遗传学检查非常必要。     

银川地区原发闭经患者的染色体检查与病因分析

目的分析原发闭经患者染色体核型与病因.方法分析61例原发闭经患者外周血淋巴细胞染色体核型.结果61例原发闭经患者检出20例异常棱型,占受检者32.79%,其中性染色体异常18例,占异常核型90.00%;常染色体异常2例,占异常核型10.00%.41例染色体正常,其中单纯性腺发育不全27例;先天无子宫、无阴道10例;4例患者出现男性化特征.结论染色体异常是导致原发闭经的重要原因之一.     

原发闭经患者的细胞遗传学分析

先天发育异常是导致原发闭经的主要原因之一。细胞遗传学检查发现,在该类患者中染色体异常率可高达30@%。因而对原发闭经患者进行染色体核型分析是诊断中极为重要的检查方法。本文对遗传咨询门诊667例患者中33例原发闭经者进行了染色体检查,结果分析如下。资料与方法1分析对象:遗传咨询门诊就诊的33例原发闭经患者,年龄1230岁,社会性别均为女性。2方法:染色体核型分析采用常规外周血淋巴细胞培养,染色体标本制备ＧＴＧ显带,油镜下计数30个中期分裂相,按1/10进行核型分析,如有数目异常加倍计数,结构异常加倍核型分析,必要时采用Ｃ带处理及…     

深圳地区78例原发闭经患者细胞遗传学分析

原发闭经可由各种原因引起，但染色体异常是其致病的主要原因之一。我室自１９８７年至今先后对７８例原发闭经患者进行外周血染色体检查，现将结果报告分析如下。病例与方法７８例原发闭经患者均来自我院妇产科、内分泌科门诊及市内其它医院。年龄１５岁～３８岁之间，其中有１７例已婚，其余未婚。全部病例均取外周血培养，按常规方法制备染色体标本，G带处理后作染色体核型分析，每例标本计数３０个核型，分析３～５个G带核型，遇嵌合型时分析核型数加倍。结果７８例原发闭经患者查出染色体异常２７例，异常率为３４．６１％（２７／７…     

346例闭经患者的染色体核型分析

目的分析本室遗传咨询门诊及不孕专科门诊中原发闭经和继发闭经患者中的染色体异常,并探讨其临床意义,为其治疗提供指导。方法按常规方法制备患者外周血淋巴细胞染色体,进行核型分析。结果在346例病人中共检出染色体异常79例,异常检出率为22.8%,主要涉及X染色体的数目和结构异常。结论染色体异常是导致原发和继发闭经的重要原因之一,结合临床体征和染色体检查,可为闭经患者寻找病因提供依据。     

Bone density patterns after normal and premature menopause

Objectives: The investigation of the effect of time and type of menopause on bone mineral density (BMD) at different ages. Methods: Five hundred and fourteen women, who had never received any hormonal substitution were studied in a cross-sectional design: 177 with normal (NMP), 210 with surgical (SUMP) and 127 with premature natural (EMP) menopause. Age at menopause was 49.1±3.9, 38.3±4.7 and 38.1±4.2 years (mean±1 S.D.), respectively. BMD was measured at L2–L4 vertebrae and proximal femur by the DEXA method. Results: EMP women presented significantly lower vertebral BMD than NMP women in the 45–55-years segments (P<0.001), but did not differ from SUMP women. This group exhibited lower vertebral BMD than NMP between 45 and 50 years (P<0.001). Regarding femoral neck, EMP women exhibited lower values than SUMP in the 45–50 and 55–65 age segments (P<0.001) whereas SUMP women presented significantly higher BMD values than NMP women after 55 years of age (P<0.001). The percentages of women with vertebral BMD (T-score values) in the osteoporotic range were significantly greater in EMP compared with either NMP or SUMP groups (both P<0.001) whereas in femoral neck lower in SUMP than the other two categories. Conclusions: Women with either natural or surgical premature menopause exhibit lower BMD of trabecular bone compared with normal menopause women at the age segments 45–55 and 45–50, respectively. However, surgical menopause women exceed normal menopause women in their mixed bone BMD values after 60 years as well as premature natural menopause women at almost all age segments.     

Effect of natural early menopause on bone mineral density

OBJECTIVES: Early menopause (EM) is included among the risk factors for osteoporosis. Several studies have shown that women with early menopause have lower bone mineral density (BMD) than those with normal expected age of menopause. The aim of our cross-sectional study was to investigate the effects of time of menopause on vertebral bone mass in healthy postmenopausal women and to evaluate if early menopause is a risk factor for lower vertebral BMD. METHOD: We studied 782 who had never received drugs acting on bone mass. The study population was divided into three groups: women with early, normal (NM), and late (LM) menopause. Our study population was further categorized in 5-year age segments between 45 and >75. RESULTS: The three groups examined did not differ for age, age at menarche, body mass index (BMI), and vertebral BMD, while there were significant differences in age at menopause and years since menopause. Our study showed that women with EM presented significantly lower vertebral BMD than NM and LM in 50-54 age segments. Beyond 55 years, EM, NM, and LM women had no differences in lumbar BMD values. CONCLUSIONS: In conclusion, controversial data demonstrated that the absolute amount of bone loss is greater after early menopause than after normal or late menopause, even if a slight effect of early menopause on bone mass cannot be excluded.     

A comparison of health-related quality of life (HRQOL) after natural and surgical menopause

Objective

To compare the health-related quality of life (HRQOL) of women at surgical menopause with that of women at natural menopause, utilizing the Menopause Rating Scale (MRS-II).

Study design

An institution-based cross-sectional study design was used, with 32 participants in each of two groups: women who had undergone surgical menopause of 9–12 months previously; and women who were more than 40 years of age and had had oligomenorrhoea for at least 1 year. The MRS-II was used to assess HRQOL. None of the women had received any hormonal therapy before assessment.

Main outcome measures

Total MRS-II scores along with the scores on the somato-vegetative, psychological and urogenital sub-scales were compared between the two groups.

Results

HRQOL was rated as worse by the surgical menopause group than by the natural menopause group: the total MRS-II scores were much higher for the surgical menopause group (mean = 29.4, SD = 6.7) than for natural menopause group (mean = 20.7, SD = 6.5), and this difference was significant (p < 0.0001). Similar results were obtained on the three sub-scales—somato-vegetative (p = 0.030), psychological (p < 0.0001) and urogenital (p < 0.0001).

Conclusion

HRQOL is worse after surgical than in natural menopause. Routine surgical castration at hysterectomy should be avoided because of adverse short-term effects and, potentially, long-term consequences.     

Efficacy of pulsed estrogen therapy in relatively younger patients with surgically induced menopause

BACKGROUND: Pulsed estrogen therapy is a new approach in estrogen replacement therapy. We carried out a prospective study to evaluate the efficacy of pulsed estrogen therapy in relatively younger patients with surgically induced menopause. METHODS: Patients (n=138) <45 years old and suffering from severe vasomotor symptoms secondary to surgically induced menopause were included in the study. After the initiation of pulsed estrogen therapy (300 microg/day), the patients were re-evaluated every 4 weeks. The dose was increased at each follow-up, if necessary (to a maximum of 600 microg/day). The patients who preferred another method after the first 12 weeks were prescribed oral conjugated estrogen (0.625 mg/day) and at the end of the second 12 weeks their satisfaction levels were assessed. RESULTS: At the end of the first 12 weeks, 26 patients were completely satisfied (18.8%) and 47 were moderately satisfied (34.1%), whereas 65 concluded that the pulsed estrogen therapy they received was ineffective (47.1%). At the end of the second 12 weeks, all the patients were completely satisfied. CONCLUSION: Pulsed estrogen therapy for 12 weeks reduced the frequency of hot flushes in relatively younger patients with surgically induced menopause; however, 81.2% of patients were not completely satisfied at the end of this period.     

The clinical features of the menopause and its relation to the length of pregnancies and lactation

The clinical features of the menopause and the influence of the length of pregnancies and lactation on the age of menopause and on the incidence of hot flushes were studied in 154 women aged 50–85 yr. The mean age at menopause was 46.6 ± 4.7 SD yr. The cessation of menses occurred abruptly in 43.5% of the cases or after a period of menstrual irregularities (56.4% of the cases). The prevalent abnormalities were oligomenorrhea (45.4%) or functional bleeding (10.4%), both of short duration in the majority of the cases. Hot flushes were experienced more frequently (68.9%) in women with menstrual irregularities before the onset of menopause and especially those who presented an oligo-menorrhea (71.4%) than in women with abrupt cessation of menses (41.7%). The length of pregnancies did not seem to influence the age at menopause. The mean age at menopause in 17 nulligravida women was 46.5 yr and did not differ significantly from the mean age at menopause of women with 1–19, 20–39, 40–59 and 60–110 mth of pregnancies. The duration of pregnancies, however, seemed to influence the incidence of hot flushes. Women with more than 20 mth of pregnancy had a significantly smaller incidence of hot flushes than nulligravida or women with 1–19 mth of pregnancy.

The length of lactation was also not correlated with the age at menopause. Finally, the age of last pregnancy was not found to be related with the menopause or the incidence of hot flushes.     

The impact of hormonal therapy for infertility on the age at menopause

Objectives: To look for possible association between past history of ovulation induction and age at menopause. Design: Women attending our postmenopausal outpatient clinic were asked to fill questionnaires with demographic data, obstetrical history (including treatment for infertility), and medical details related to menopause. Patients: The study group (n=31) consisted of women with a history of ovulation induction, and a control group (n=200) included women who did not experience such intervention. Results: The age at the final menstrual bleeding was 46.4±5 in the study group, and 50±4 for the control group (P<0.001). This difference was most prominent for women who had induction of ovulation prior to age 35 years: they entered menopause at age 43.8±5 years. Smoking had a weak effect on the age at menopause (48.5±4 for current, vs. 49.9±4 for non- or past-smokers; P<0.03). Conclusions: This retrospective and preliminary study raises the question whether hormonal manipulations and ovarian over-stimulation during fertility treatments could be a risk factor for premature menopause.     

Age at natural menopause in three Central and Eastern European urban populations: The HAPIEE study

Objectives

To investigate the age at menopause in three urban populations in Central and Eastern Europe and to assess whether the (suspected) differences can be explained by a range of socioeconomic, reproductive and behavioural factors.

Methods

The Health, Alcohol and Psychosocial factors in Eastern Europe (HAPIEE) Study examined random samples of populations aged 45–69 years in Novosibirsk (Russia), Krakow (Poland) and six Czech towns. Participants completed a questionnaire and attended an examination in clinic. A total of 12,676 of women were included in these analyses.

Results

The median age at menopause was 50 years in Novosibirsk, 51 years in Czech towns and 52 years in Krakow; the Cox regression hazard ratios of menopause, compared with Krakow, were 1.47 (95% CI 1.40–1.55) for Novosibirsk and 1.10 (1.04–1.16) for Czech women. In multivariate analyses, higher education, using vitamin and mineral supplements and ever use of oral contraceptives were associated with later menopause, while smoking, abstaining from alcohol and low physical activity were associated with earlier menopause. These factors, however, did not explain the differences between populations; the multivariate hazard ratios of menopause, compared with Krakow, were 1.48 (1.40–1.57) for Novosibirsk and 1.11 (1.05–1.17) for Czech women.

Conclusions

In this large population based study, differences in age at menopause between Central and Eastern Europe populations were substantial and unexplained by a range of risk factors. Associations of age at menopause with risk factors were largely consistent with studies in other populations.     

Premature menopause or early menopause: Long-term health consequences

Objective

To review and summarize current evidence on the health consequences of premature menopause and early menopause.

Methods

We reviewed existing literature and combined graphically some results from the Mayo Clinic Cohort Study of Oophorectomy and Aging.

Results

Premature menopause or early menopause may be either spontaneous or induced. Women who experience premature menopause (before age 40 years) or early menopause (between ages 40 and 45 years) experience an increased risk of overall mortality, cardiovascular diseases, neurological diseases, psychiatric diseases, osteoporosis, and other sequelae. The risk of adverse outcomes increases with earlier age at the time of menopause. Some of the adverse outcomes may be prevented by estrogen treatment initiated after the onset of menopause. However, estrogen alone does not prevent all long-term consequences, and other hormonal mechanisms are likely involved.

Conclusions

Regardless of the cause, women who experience hormonal menopause and estrogen deficiency before reaching the median age of natural menopause are at increased risk for morbidity and mortality. Estrogen treatment should be considered for these women, but may not eliminate all of the adverse outcomes.     

Estrogen and cognitive aging in women

Although several randomized controlled trials of surgically menopausal women have provided evidence that estrogen protects aspects of memory, many cross-sectional and longitudinal studies, including those from the Women's Health Initiative Memory Study, have failed to confirm these findings. One critical difference between studies that found a protective effect of estrogen on memory and those that did not is that, in the former studies, treatment with estrogen began at the time of menopause and in the latter studies, it was first administered many years after the menopause had occurred. Recent evidence from rodent, nonhuman primate, and human studies consistently suggests that the timing of the initiation of estrogen treatment with regard to the menopause may be critical to our understanding of the estrogenic effect on memory. Results of these animal and human studies indicate that the initiation of estrogen treatment at the time of menopause, or soon after ovariectomy, provides a window of opportunity for the protection of memory in females whereas the administration of the hormone following a considerable delay in time after ovariectomy or following a natural menopause has little or no beneficial effect on cognition.     

Season of birth influences the timing of menopause

BACKGROUND: Seasons may influence prenatal growth and future fertility. This study investigated whether season and month of birth influenced the timing of menopause in a group of women attending three Italian menopause clinics. METHODS and RESULTS: Age at menopause of 2822 post-menopausal women (>12 months of amenorrhoea) was stratified by month and season of birth. Mean age at menopause was 49.42 years (SEM: 0.78 years). Menopause occurred earlier for women born in the spring (age 49.04+/-0.15 years) than in the autumn (49.97+/-0.14 years). The earliest menopause was found in women born in March (48.9+/-0.25 years) and the latest in women born in October (50.3+/-0.25 years). The effect of season of birth on age at menopause remained even when considering factors that in our analysis were capable of significantly interfering with the timing of menopause, such as age at menarche, body mass index, smoking habit, level of education and type of job. CONCLUSIONS: Taking into consideration the retrospective design of the study, and a possible recall bias, the present data seem to suggest that environmental factors linked to seasons are capable of interfering with the timing of a woman's ovarian exhaustion by an action exerted in the prenatal period.