Nicolás Mendoza

Androgen insensitivity syndrome.

Androgen insensitivity syndrome (AIS) is a disorder caused by a mutation of the gene encoding the androgen receptor (AR; Xq11–q12). The prevalence of AIS has been estimated to be one case in every 20,000 to 64,000 newborn males for the complete syndrome (CAIS), and the prevalence is unknown for the partial syndrome (PAIS). The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. Various forms of ambiguous genitalia have been observed at birth. The diagnosis is confirmed by determining the exact mutation in the AR gene. PAIS individuals require precise diagnosis as early as possible so that the sex can be assigned, treatment can be recommended, and they can receive proper genetic counseling. After birth, differential diagnosis should be performed using other forms of abnormal sexual differentiation of primary amenorrhea. The treatment of AIS is based on reinforcement sexual identity, gonadectomy planning, and hormone replacement therapy. The prognosis for CAIS is good if the testicular tissue is removed at the appropriate time. For PAIS, the prognosis depends on the ambiguity of the genitalia and physical and psychosocial adjustment to the assigned sex.

Lipid effects, effectiveness and acceptability of tibolone versus transdermic 17β-estradiol for hormonal replacement therapy in women with surgical menopause

OBJECTIVE To compare the effectiveness of tibolone and 17 beta-estradiol on climacteric symptoms, lipid and biochemical parameters in women with surgical menopause. METHODS In a prospective randomised clinical trial group comparative study, the effects on the aforementioned parameters, as well as treatment compliance and side effects were studied with oral tibolone 2.5 mg per day and with transdermic 17 beta-estradiol at 50 microg per day for a period of 12 months. Statistical analysis was carried out using the Fisher-test, analysis of the variance (ANOVA) for the two factors and the Bouferoni test. RESULTS Lipid metabolism analysis showed lower levels of HDL and triglycerides in the tibolone group. Other biochemical parameters were not affected. Similar reductions in climacteric symptoms were found in both the groups, but the tibolone group revealed a greater improvement in psychological problems and in sexual behaviour. No differences were observed with respect to compliance and side effects. CONCLUSIONS Tibolone is as effective or more than 17 beta-estradiol in reducing climacteric symptoms, and shows greater triglyceride and total cholesterol improvements. Tibolone is a good alternative to estrogens in women with surgical menopause.

Apoptosis in human granulosa cells after induction of ovulation in women participating in an intracytoplasmic sperm injection program

OBJECTIVES To investigate whether analysis of granulosa cell apoptosis can be useful in assessing follicular and oocyte maturation and the regulation of granulosa cell apoptosis by follicular fluid steroids in preovulatory follicles of stimulated women. STUDY DESIGN Apoptosis in aspirated granulosa cells (n=64) was measured using the Annexin V-affinity assay by flow cytometry. Follicular fluid steroids were determined by ELISA and RIA. Statistics were evaluated using the Levenne test, Student t-test and simple linear regression analysis. RESULTS No significant differences in the number and percentage of apoptotic granulosa cells per follicle were observed according to the maturity and fertilizability of the oocytes by intracytoplasmic sperm injection within these follicles. No correlations were found between levels of steroid hormones in follicular fluid and the number and proportion of granulosa cells undergoing apoptosis. CONCLUSIONS The percentage of apoptosis in granulosa cells is not related to oocyte maturity and fertilizability by ICSI or to follicular quality in stimulated cycles of normal women. However, the possibility cannot be discarded that this parameter may be of importance at other phases of follicular development or in natural cycles when no treatment that influences follicular physiology is being applied.

Position of the Spanish Menopause Society regarding the management of perimenopause

Perimenopause is an imprecise period in woman over 40 years of age, which comprises the time between the moment that the first changes in the menstrual cycle appear and the year following the definitive cessation of the menses. Besides irregular bleeding, many women also complain of hot flashes and other characteristic symptoms of postmenopause. Moreover, most of them are concerned about the future impact that these events may have on their health, such as needing health exams or continuing to use contraceptive methods. A panel of experts from the Spanish Menopause Society has met to establish diagnostic and therapeutic guidelines for this period based on the best available evidence.

2013 Up-date of the consensus statement of the Spanish Menopause Society on postmenopausal osteoporosis.

Postmenopausal osteoporosis is a major female health problem that increases morbidity, mortality and healthcare system costs. Considering that gynecologists are the primary health practitioners involved in the treatment of women with osteoporosis in our country, a panel of experts from the Spanish Menopause Society met to establish a set of criteria and procedures for the diagnosis and treatment of this disease based on the best available evidence and according to the model proposed by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) system to elaborate clinical practice guidelines and to classify the quality of the evidence and the strength of the recommendations. These recommendations should be a reference to gynecologist and other health professionals involved in the treatment of postmenopausal women.

Benefits of physical exercise in postmenopausal women

Physical inactivity not only places womens health at risk during menopause, but also increases menopausal problems. Abundant evidence links habitual physical exercise (PE) to a better status on numerous health indicators and better quality of life and to the prevention and treatment of the ailments that typically occur from mid-life onwards. We can infer that PE is something more than a lifestyle: it constitutes a form of therapy in itself. A panel of experts from various Spanish scientific societies related to PE and menopause (Spanish Menopause Society, Spanish Cardiology Society, Spanish Federation of Sports Medicine) met to reach a consensus on these issues and to decide the optimal timing of and methods of exercise, based on the best evidence available.

Cross-cultural adaptation and validation of the Falls Efficacy Scale International in Spanish postmenopausal women.

ObjectiveFalls are a serious public health problem and one of the most important concerns for older people. The risk of falling is dramatically increased in osteoporotic postmenopausal women. The Falls Efficacy Scale International (FES-I) is a reliable and validated questionnaire that can assess the fear of falling. Our objective is to develop the FES-I cross-cultural adaptation to the Spanish postmenopausal population. MethodsFES-I was translated into Spanish language. One hundred postmenopausal women (50-65 years old) completed the FES-I and the 36-item Short-Form Health Survey (SF-36) questionnaire. Content validity was determined by a group of experts and participants. FES-I internal consistency and test-retest reliability were analyzed. Exploratory factor analysis was used to assess construct validity. Criterion validity has been evaluated using the Spearman correlation coefficient with the 36-item Short-Form Health Survey. ResultsFES-I has an excellent test-retest reliability (intraclass correlation coefficient, 0.972; P < 0.001) and good internal consistency (Cronbach &agr; = 0.940). Factor analysis showed one unifactorial structure with two underlying dimensions related to less or more demanding physical activities. FES-I global score showed a negative correlation with the two SF-36 summary measures (P < 0.001). ConclusionsThe Spanish version of FES-I showed high reliability and validity in the adaptation for the Spanish postmenopausal population. Future studies are required to assess the sensitivity to change and to predict the risk of future falling.

A Digenic Combination of Polymorphisms Within ESR1 and ESR2 Genes Are Associated With Age at Menarche in the Spanish Population

In the present study, the authors look at an association of genetic variants within estrogen synthesis and signaling pathways and age at menarche (AAM) in Spanish women. They analyzed 9 polymorphisms in 6 different genes in 714 well-characterized postmenopausal women from Spain. They performed a quantitative trait locus study of these markers individually or in digenic combinations in relation to AAM. None of the studied markers, with the exception of the follicle-stimulating hormone receptor (P = .013), were significantly associated with AAM in the Spanish population, and no marker demonstrated an association of statistical significance after multiple testing corrections ( P > .0055). In contrast, linear regression analysis suggests epistatic interactions including ESR1 and ESR2 loci in relation to AAM in the series (P = .003). The results suggest that epistatic interactions of ESR1 and ESR2 alleles could be associated with advancing AAM among Spanish women.

Expression of Transcription Factors in Endometrium During Natural Cycles

AbstractPurpose: The sex steroid control of the endometrial cycle is mediated by transcription factors, four of which are the estrogen and progesterone receptors, c-jun and c-fos, all expressed by the endometrium. The aim of this study was to analyze the distribution of the transcription factors in the different endometrial compartments during natural cycles. Methods: We studied 53 reproductively-normal women, of whom 26 were in the proliferative phase and 27 in the secretory phase. An endometrial biopsy was performed and serum values of LH, FSH, estradiol, and progesterone were determined. We studied the expression of transcription factors using monoclonal antibodies. Results: A correlation between estrogen receptor and c-jun and c-fos expression was observed in stroma and epithelia, and progesterone receptor expression correlated with c-jun expression in epithelia. C-jun and c-fos presented greater expression in the proliferative phase than in the secretory phase, in the stroma and in both epithelia. No relation was found between estradiol serum levels and any transcription factor, but progesterone serum levels correlated significantly with most such factors. Conclusion: The two proto-oncogenes could play a decisive role in regulating the endometrial cycle; they could mediate the effects induced by sex steroid, and could be related to other transcription factors.

Hormonal contraceptive choice for women with PCOS: a systematic review of randomized trials and observational studies.

Abstract Introduction: This paper provides a critical review of the data concerning the effects of combined hormonal contraceptives (CHC) for polycystic ovary syndrome (PCOS). The aim is to determine the best treatment option for each PCOS phenotype. Study design: A literature search of the PubMed database was conducted for randomized clinical trials (RCTs) and observational studies published in any language prior to October 2013. Hyperandrogenism (HA) is the essential diagnostic criterion for PCOS and is frequently associated with insulin resistance (IR) or obesity. The combinations of these criteria define the different PCOS phenotypes and establish the scale of metabolic and cardiovascular risks. Results and conclusions: 19 RCTs and eight observational studies evaluated issues related to the current objectives. CHC represent an effective and safe treatment in women with any PCOS phenotype. In HA/PCOS patients, any CHC analyzed in this review can be used for symptom relief. For patients with metabolic risk, overweight or moderate IR that does not require metformin, a vaginal contraceptive ring appears to be preferred to oral EE/DRP. In these patients, the combination of CHC and myo-inositol may be more effective in controlling endocrine and metabolic profiles. However, further research is needed to define the optimal duration and to clarify the effects of treatment on long-term metabolic outcomes. Future research should also focus on new CHC. Chinese abstract 引言：这篇文章将复合激素类口服避孕药对多囊卵巢综合征（polycystic ovary syndrome，PCOS）患者作用的相关数据进行了重要的综述，目的是为PCOS不同表型患者提供最好的治疗方法。 研究设计：对PubMed 数据库2013年10月前以任何语言发表的随机临床试验（randomized clinical trials，RCTs）和观察性研究进行文献检索。雄激素增多症是PCOS的主要诊断且常常与胰岛素抵抗或肥胖相关。这些标准的组合定义了不同的PCOS表型，建立代谢和心血管疾病风险的模式。 结果和结论：我们检索到19项RCTs和8项观察性研究。复合激素类避孕药对任何表型的PCOS患者都有好的有效性和安全性。这篇综述中分析到的任何一种激素类避孕药都能改善高雄型PCOS患者的症状。有代谢风险、超重或中度胰岛素抵抗不需应用二甲双胍的PCOS患者，阴道避孕环比口服雌孕激素作用要好。对于这些患者复合激素避孕药和肌醇联合应用可能会更好的控制内分泌和代谢问题。但需要进一步研究来确定最合适的应用时间及长期治疗对代谢结局的影响。将来的研究还应关注新型复合激素避孕药。