女性性反转综合征合并性腺母细胞瘤及无性细胞瘤一例

性反转综合征是一类染色体性别与性腺性别不相符的遗传性疾病,其发病率极低、发病机制不详且相关临床表现各异。现报告1例染色体核型为46,XY,但其社会性别、内外生殖器均为女性,且右侧卵巢伴有性腺母细胞瘤及无性细胞瘤患者的病例资料,以期为该病的相关诊疗及研究提供一些新的临床思路。     

46,XX男性性别逆转综合征20例报告

目的探讨20例46,XX男性性别逆转综合征的特征,对性别逆转患者在诊断上进行染色体和分子遗传学检查有重要意义。方法利用PCR方法对本院2009年1月—2016年1月收集的20例46,XX男性性别逆转综合征患者进行Y染色体SRY基因和AZF检测;利用化学发光法对促卵泡生成素(follicle-stimulating hormone,FSH)、促黄体生成素(luteotropic hormone,LH)、乳泌素(prolactin,RPL)、睾酮(T)、雌二醇(E2)、促甲状腺激素(thyroid stimulating hormone,TSH)进行测定。结果 20例46,XX男性性别逆转综合征患者中,46,XX(SRY+)男性,abcd缺失9例;46,XX(SRY-)男性,AZF abcd缺失11例。在血清学中,20例患者T大多数降低,FSH和LH均升高。结论对46,XX男性性别逆转综合征患者在诊断上进行染色体和分子遗传学检查有重要的意义,应提倡全民筛查染色体。     

性发育异常发病机制的研究进展

正常的性腺分化可分为3个过程:原始性腺形成、性别决定和卵巢/睾丸发育。在任一环节中,基因表达或调控发生异常均有可能导致性发育异常疾病的发生。性发育异常是指染色体、性腺和解剖性别不典型。随着分子生物学技术的发展,不断地发现新的基因或信号通路参与性腺分化和发育,如SRY、SF1、WT1、Sox9等基因与睾丸发育密切相关,Wnt/Rspo1/B连环蛋白通路、Dax1、Foxl2等基因在卵巢分化中发挥着重要作用,一些非编码RNA和转化生长因子也有重要的调节功能,且睾丸和卵巢发育均为主动过程,即使在出生后因某些基因的改变两者间也可出现横向分化。这些为揭示性分化异常的发病机制提供了可能。     

人类性别决定的研究现状

人类性别的决定和分化是由SRY基因主导,多基因协调,并在相关激素的参与下实现的.在胚胎发育过程中任何一个环节出现异常都可能严重影响性别的决定和分化.本文总结了近年来性别决定相关基因的研究成果,将对几 种主要基因作一阐述.     

性发育异常发病机制的研究进展

正常的性腺分化可分为3个过程：原始性腺形成、性别决定和卵巢/睾丸发育。在任一环节中,基因表达或调控发生异常均有可能导致性发育异常疾病的发生。性发育异常是指染色体、性腺和解剖性别不典型。随着分子生物学技术的发展,不断地发现新的基因或信号通路参与性腺分化和发育,如SRY、SF1、WT1、Sox9等基因与睾丸发育密切相关,Wnt/Rspo1/B连环蛋白通路、Dax1、Foxl2等基因在卵巢分化中发挥着重要作用,一些非编码RNA和转化生长因子也有重要的调节功能,且睾丸和卵巢发育均为主动过程,即使在出生后因某些基因的改变两者间也可出现横向分化。这些为揭示性分化异常的发病机制提供了可能。     

输卵管性不孕的治疗

输卵管性不孕是女性不孕症的主要原因,近年来其发病率有逐年增高的趋势.治疗输卵管性不孕的方法很多.传统的输卵管通液和子宫输卵管造影治疗输卵管性不孕取得了一定的疗效,在此基础上发展了介入治疗、内窥镜联合介入治疗及手术治疗等,还有的配合了中医药物治疗及物理疗法.以上各种治疗方法均得到了较好的疗效,各有特点也各有利弊.     

5例特纳综合征的细胞遗传学分析

特纳综合征(Turner’s Syndrome,TS)又叫性腺发育不全综合征,是一种性染色体异常综合征。主要临床表现为:身材矮小、第二性征发育差,内外生殖器发育不良,原发闭经而导致不育。笔者在临床中发现5例具有不同染色体核型,却有着相似TS体征的患者,现报告如下。一、对象与方法1.对象2     

转胎丸：逆转性别太荒唐

怀胎十月,生下来的宝宝却辨不出男女。原来,竟是母亲在怀孕期间服用了“转胎丸”。     

多囊卵巢综合征的表观遗传学研究进展

多囊卵巢综合征(polycystic ovary syndrome,PCOS)的发病机制复杂,用遗传和环境因素都不能完好地解释.目前,表观遗传学在PCOS发生发展中的作用日益受到重视.表观遗传是指基因序列未发生改变,但是DNA的表达却发生了可遗传的变化,涉及DNA甲基化、组蛋白乙酸化、X染色体失活和基因组印迹等机制.D...     

DNA甲基化与男性不育关系的研究进展

在严重的精子缺乏患者中普遍存在异常的表观遗传变化,已经发现亚甲基四氢叶酸还原酶(MTHFR)、PAX8、NTF3、SFN、HRAS、JHM2DA等基因DNA甲基化改变与不育患者中异常的精液参数有关,这些基因通常是高甲基化的.甲基化和去甲基化的正确调控对个体正常发育至关重要,微小的DNA甲基化异常与许多疾病有关,包括男性不育.阐述男性生殖细胞中正常的DNA甲基化,并对已经发现的异常DNA甲基化和男性不育的关系进行综述,从中探究男性不育的某些遗传学病因.     

46,XY女性性反转综合征一例并文献复习

回顾1例原发性闭经的青少年女性腹部彩色超声、染色体核型及外周血染色体畸变检测（芯片）分析的病例资料,复习46,XY女性性反转相关文献,探讨该病的临床病因、诊断及治疗。该患者行腹部彩色超声检查提示未见两性器官;染色体核型分析为46,X,max?;外周血染色体畸变检测（芯片）分析结果为46,XY。推断该患儿临床病因与染色体性别决定性腺分化过程的异常相关。可见传统染色体核型检测具有一定的局限性,利用外周血染色体畸变检测（芯片）分析可明确病因。     

益肾Ⅰ方及其拆方对PCOS大鼠调节性激素及抑制氧化应激作用的比较研究

目的比较益肾I方及其拆方分别对多囊卵巢综合征（PCOS）大鼠的治疗作用。方法采用十一酸睾酮加绒促性素（HCG）建立PCOS大鼠模型,连续口服给予二甲双胍、益肾I方或其拆方6周,探讨大鼠血糖、胰岛素敏感性、促炎细胞因子、性激素以及氧化应激反应等方面的效应。结果二甲双胍和三个中药组均能不同程度地改善PCOS大鼠上述病理改变（P〈0.01;P〈0.05）,但二甲双胍及三个方剂间效应,差异未见显著性（P〉0.05）。结论二甲双胍、益肾I方及其拆方均能不同程度地改善PCOS大鼠胰岛素抵抗（IR）、血糖代谢异常、高雄激素血症以及氧化应激状态,且各药作用强度间差异未见显著性;PCOS大鼠模型及实验成功,但模型不能反映中药方剂的适应证。     

Motivational Influences on the Safer Sex Behavior of Agency-based Male Sex Workers

Although indoor male sex workers (MSWs) have been found to engage in lower rates of HIV risk behavior with clients than street-based MSWs, few studies have examined the motivations behind such practices. We interviewed 30 MSWs working for the same escort agency regarding their safer sex practices with clients and their reasons for these. As in other research, MSWs reported little risk behavior with clients. Five motivational themes related to safer sex on the job emerged: health concerns, emotional intimacy, client attractiveness, relationships, and structural work factors. Results suggest that participants engaged in rational decision-making relative to sex with clients, facilitated by reduced economic incentive for riskier behavior and a supportive social context. MSWs desired a safe sexual work place, personal integrity, and minimal negative consequences to personal relationships. Collaborating with sex work employers to study their role in encouraging a safer workplace may be important to future research.     

大学生婚前性行为和性态度现状分析

目的 了解大学生婚前性行为现状及其态度与发展趋势。方法 采用分层整群抽样抽取福建师范大学900名学生进行无记名问卷调查,有效问卷876份。结果 显示认为贞操观至关重要的占52．6％,对婚前性行为持慎重态度的占76．5％,但也有半数以上的学生对婚前性行为持宽容,默许和赞同态度,甚至有30．1％的学生认为同居是现代的生活方式（男生占42．8％,女生占17．1％）,在被调查人群中,有过婚前性行为的占5．5％（男性占8．3％,女性占2．5％）。结论 目前大学生婚前性行为虽然还不普遍,但性态度已开始发生变化,应及时给予正确的引导,教育。     

福建省某市男男性接触人群相关血清学监测及分析

[目的]对福建省某市男男性接触者(MSM)进行相关血清学监测,了解该人群中艾滋病病毒(HIV)和梅毒等性传播疾病(STDs)的感染状况,为制定干预措施提供依据。[方法]采用方便抽样法对MSM人群进行匿名问卷调查,并抽取静脉血进行HIV抗体、梅毒抗体、乙肝病毒HBsAg及丙肝病毒抗HCV-IgG的检测。[结果]共采血检测MSM159例,结果梅毒抗体TRUST阳性率为12.6%(20/159),TPPA阳性率为25.8%(41/159);HIV抗体阳性率为1.9%(3/159),其中1例同时检出梅毒和HIV抗体阳性,HIV和梅毒累积感染率为27.0%;HBsAg阳性率为12.6%(20/159);未检出抗HCV-IgG。年龄大于25岁是HIV和梅毒累积感染的危险因素。[结论]HIV/STDs在MSM人群中存在局部流行的可能性,应及时采取干预措施,控制其流行及向一般人群的传播。     

Aggressive and Mating Behaviors in Two Types of Sex Reversed Mice: XY Females and XX Males

Aggressive and mating behaviors were assessed in XX females, XY females, and XY males of the C57BL/6/J/Ei (“C57BL/6” or “B6”) strain of mouse. The Y chromosome of the XY females derives from Mus domesticus poschiavinus and the Y chromosome of the XY males derives from Mus musculus. The poschiavinus Y in the C57BL/6 background results in XY mice with either ovaries or ovotestes. Only those with ovaries were tested. These XY females appear to be endocrinologically identical to XX females. Aggressive and mating behaviors were also tested in XX males and XY males of the FVB/NtacfBR Odsex (“FVB”) strain of mouse. The XX males have a transgene inserted 1 Mb upstream of the SOX9 gene, resulting in gonadal differentiation as a testis in the absence of a Y chromosome. C57BL/6 mice were tested for aggression in an instigated resident intruder paradigm and FVB/NtacfBR Odsex mice were tested for aggression in a neutral cage paradigm. Mice of both strains were tested with opponents of the same sex chromosome complement and gonadal sex. On the C57BL/6 background, the XY males were more aggressive than the XY and XX females, but there was no significant difference between the XX and XY females in aggression. On the FVB background, the XY and XX males were equally aggressive. Mice from both C57BL/6 and FVB backgrounds were tested for mating behaviors with females in hormonal estrus. On the C57BL/6 background, the XY males mounted more than the XY females, but there was no significant difference between the XY and XX females in mounting. On the FVB background, mounting, intromissions, and ejaculations were the same in XY and XX males. The implications of these findings for the effect of sex chromosome complement on sex differences in aggression and mating in mice are discussed.     

47,XXX综合征的研究进展

47,XXX综合征是女性中最常见的性染色体非整倍体疾病,表型多样且症状较轻,缺乏普遍的生理、心理异常特点,有些女性甚至还可以有正常的月经周期和生育能力。一直以来,47,XXX综合征虽然有较高的发病率,诊断率却只有10%左右。近年随着非侵入性产前基因筛查技术的开展与普及,越来越多的性染色体非整倍体疾病被筛查出来。为提高该疾病的诊断率和方便遗传咨询,亟需对47,XXX综合征有一个全面的理解,以便为患者和医者提供临床总结和诊疗指导。本文介绍47,XXX综合征形成机制、表型、行为和认知表现、神经成像特点、遗传学诊断及其研究进展。     

Racial,Socioeconomic, and Attitudinal Disparities in Trajectories of Young Women's Willingness to Refuse Unwanted Sex

PurposeWe identify trajectories of young women's willingness to refuse unwanted sex, assess racial, socioeconomic, and attitudinal variation across trajectory groups, and describe the sexual and relationship behaviors of different trajectory groups.MethodsPanel data from the Relationship Dynamics and Social Life study facilitate a latent class analysis identifying trajectories of women's willingness to refuse unwanted sex, followed by bivariate analyses illuminating demographic, attitudinal, experiential, and behavioral correlates of each trajectory.ResultsThree trajectories emerge confident (stable high), moderate (slightly declining moderate), and reluctant (low-U). Socially advantaged women were most likely to follow a confident trajectory. Black women, socially disadvantaged women, women with early sexual debut, women with early births, and women who adhere to rape myths were most likely to follow a reluctant trajectory. Women whose trajectory was moderate spent the most time in relationships and had sex most often.ConclusionsHow much young women are willing to refuse unwanted sex and how this willingness changes during the transition to adulthood vary with key characteristics of their demographic background, earlier sexual experiences, and perceptions of rape. The trajectories by which this willingness evolves further correspond with sexual and relationship behaviors during the transition to adulthood. Greater research on whether willingness to refuse unwanted sex affects behavior and/or vice versa is needed to more fully understand the diversity of women's sexual experiences and to develop effective interventions for improving women's willingness to refuse unwanted sex.     

去氧孕烯炔雌醇治疗多囊卵巢综合征的系统评价

目的系统评价（systematic review,SR）去氧孕烯炔雌醇（desogestrel ethinylestradiol,DE;妈富隆,marvelon）治疗多囊卵巢综合征（polycystic ovary syndrome,PCOS）的效果并与其他治疗措施相比较。方法采用Cochrane系统评价法,检索Evidence Base Medicine Reviews,Medline,EMbase和CNKI等数据库,纳入去氧孕烯炔雌醇治疗多囊卵巢综合征患者的随机／半随机对照研究。评价纳入研究的方法学质量,采用RevMan4．2软件对有关数据进行meta分析。结果本研究共纳入相关文献15篇,1073例患者,纳入研究的方法学质量整体偏低。①去氧孕烯炔雌醇与二甲双胍（metformin,MET）比较,在高胰岛素血症的多囊卵巢综合征患者中,降低雄激素的作用单用前者,可能不及后者（WMD=0．72,95％CI 0．54～0．90）;而在非高胰岛素血症的多囊卵巢综合征患者中,前者的作用,可能优于后者（WMD=-0．53,95％CI-0．83～-0．22）。相比去氧孕烯炔雌醇,二甲双胍对空腹血糖（WMD=0．19,95％CI 0．02～0．36）、空腹血胰岛素（WMD=4．27,95％CI 2．19～6．34）和胰岛素抵抗指数（WMD=0．21,95％CI 0．12～0．30）有明显改善作用;②去氧孕烯炔雌醇＋二甲双胍与二甲双胍比较,前者降低雄激素水平作用,可能优于后者（WMD=-0．71,95％CI-0．95～-0．48）;③去氧孕烯炔雌醇和炔雌醇环丙孕酮（ethinyl estradiol cyproterone,EEC;达因35,diane35）比较,两者对内分泌和代谢的作用无差异;④去氧孕烯炔雌醇＋促排卵治疗与促排卵治疗比较,前者提高排卵率（OR=2．21,95％CI 1．18～4．12;P=0．01）和妊娠率（OR=2．44,95％CI 1．67～3．56;P=0．001）的作用,可能优于后者。结论本研究显示,去氧孕烯炔雌醇对改善高雄激素血症相关症状和卵巢功能有效,而对糖脂代谢可能存在损害作用,可能更适用于无高胰岛素血症的多囊卵巢综合征患者的降雄激素治疗。二甲双胍可能比去氧孕烯炔雌醇更适用于有高胰岛素血症的多囊卵巢综合征患者的降雄激素治疗。去氧孕烯炔雌醇与二甲双胍联用降雄激素作用更明显,但对有明显糖脂代射异常的多囊卵巢综合征患者是否联合用药,需慎重。治疗多囊卵巢综合征,去氧孕烯炔雌醇与炔雌醇环丙孕酮降低雄激素的效果相当。去氧孕烯炔雌醇与促排卵治疗联用,比单用促排卵治疗,更适于多囊卵巢综合征不孕患者的治疗。