• 【生殖器的丘疹棘皮性角化不全。】 复制标题 收藏 收藏
    DOI:10.1111/j.1346-8138.1989.tb01270.x 复制DOI
    作者列表:Lee SH,Jang JG
    BACKGROUND & AIMS: :A 32-year-old man presented with multiple papules on the pubic area for 5 months. There were no subjective symptoms. We could not find any clues for predisposing factors. Pathological examination of the excised papules revealed marked acantholysis and dyskeratosis in the epidermis. The lesions persisted for 5 months after the pathological examination. We consider the present case to be similar to that of Chorzelski et al., papular acantholytic dyskeratosis of the vulva, reported in 1984. We would like to propose this case as papular acantholytic dyskeratosis of the genitalia.
    背景与目标: :一名32岁男子在耻骨区域出现多个丘疹,持续5个月。没有主观症状。我们找不到任何诱因的线索。切除的丘疹的病理检查显示表皮有明显的棘层松解和角化不全。病理检查后病变持续5个月。我们认为本病例与1984年报道的Chorzelski等人的外阴丘疹性棘皮性角化不全相似。我们想将此病例建议为生殖器丘疹性棘皮性角化不全。
  • 【ARX基因的无arista域中的新突变导致男性出现Ohtahara综合征,整体发育延迟和生殖器模棱两可,女性出现神经精神疾病。】 复制标题 收藏 收藏
    DOI:10.1111/j.1528-1167.2011.02980.x 复制DOI
    作者列表:Ekşioğlu YZ,Pong AW,Takeoka M
    BACKGROUND & AIMS: PURPOSE:ARX, the aristaless-related homeobox gene, is implicated in cerebral, testicular, and pancreatic development. ARX mutations are associated with various forms of epilepsy, developmental delay, and ambiguous genitalia in humans. A mouse model that recapitulates X-linked lissencephaly with ambiguous genitalia (XLAG) is far from elucidating the substrate for phenotypes that different ARX mutations cause. Moreover, despite phenotypic pleomorphism associated with X-linked dominant ARX mutations, heterozygous female carriers have not been thoroughly studied. Reviewing records of patients with ARX mutations, infantile epilepsies, and psychomotor retardation, we analyzed a family harboring a novel ARX mutation with different phenotypes in males and females, including Ohtahara syndrome. METHODS:Children's Hospital Boston patient records were retrospectively screened for patients with infantile epileptic encephalopathies who underwent ARX sequencing based on clinical suspicion. Identified families were analyzed for genetic and neuropsychiatric phenomena. KEY FINDINGS:The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain. Heterozygous females demonstrated neurocognitive/psychiatric phenomena including learning difficulties, anxiety, depression, and schizophrenia. SIGNIFICANCE:This is the first reported case of Ohtahara syndrome with abnormal genital and psychomotor development in the setting of this novel ARX mutation in exon 5. Based on the unique phenotype of the proband and on the presence of heterozygous females with neurocognitive/psychiatric ailments, this study describes the potential roles for ARX mutations in epilepsy and neuropsychiatric disease, underscoring the importance of ARX in interneuron development, cerebral electrical activity, cognition, and behavior.
    背景与目标: 用途:ARX,与无腕神经有关的同源盒基因,与脑,睾丸和胰腺发育有关。 ARX突变与人类的各种形式的癫痫,发育迟缓和生殖器模棱两可有关。用模棱两可的生殖器(XLAG)概括X连锁性脑缺损的小鼠模型远不能阐明不同ARX突变引起的表型的底物。此外,尽管表型多态性与X连锁显性ARX突变相关,但杂合子雌性携带者尚未得到充分研究。回顾具有ARX突变,婴儿癫痫和精神运动发育迟缓的患者的记录,我们分析了一个家庭,该家庭在男性和女性(包括大田原综合症)中具有不同表型的新型ARX突变。
    方法:回顾性筛查波士顿儿童医院的患者记录,以临床怀疑为基础进行ARX测序的婴儿癫痫性脑病患者。对确定的家庭进行遗传和神经精神现象的分析。
    主要发现:先证者为男性,患有大田原综合症,生殖器模棱两可,精神运动迟缓和中枢神经系统发育不全,这是由于外显子5中出现了新的ARX突变,导致无阿里斯塔氏域发生了移码。杂合子女性表现出神经认知/精神病现象,包括学习困难,焦虑,抑郁和精神分裂症。
    重要性:这是在外显子5出现这种新的ARX突变的情况下首次报道的生殖器和精神运动发育异常的大原原综合征病例。基于先证者的独特表型以及存在神经认知/精神疾病的杂合女性的存在,这项研究描述了ARX突变在癫痫和神经精神疾病中的潜在作用,强调了ARX在中间神经元发育,脑电活动,认知和行为中的重要性。
  • 【雌激素化学物质诱导女性生殖道和外生殖器持续变化的分子机制。】 复制标题 收藏 收藏
    DOI:10.1016/j.jsbmb.2011.03.009 复制DOI
    作者列表:Miyagawa S,Sato M,Iguchi T
    BACKGROUND & AIMS: :The effects of environmental endocrine-disrupting chemicals (EDCs) are a great and growing concern for human and animal development and life. The reproductive organs are considered as a primary target of EDCs, yet the effects on reproductive organs can extend to other body systems. Perinatal diethylstilbestrol (DES)-exposed mice exhibit various reproductive organ abnormalities. The perinatal DES-exposure model has allowed insight into our understanding of the mechanisms of persistent reproductive organ abnormalities elicited by exposure to estrogens and/or estrogenic EDCs. The persistent changes in the vagina of neonatally DES-exposed mice result from sustained expression of growth factors by ligand-independent transcriptional activation of the estrogen receptor. Developmental regulatory genes, such as Wnt and Hox genes, are also targets of DES during fetal stages and altered gene expression can induce malformations of the reproductive organs. In this review, we focus on the development of female reproductive tracts and external genitalia, and discuss the recent progress in understanding the disruptive effects of estrogens and EDCs on these organs.
    背景与目标: :破坏环境内分泌的化学物质(EDC)的影响是对人类和动物发展与生活的重大且日益增长的关注。生殖器官被认为是EDC的主要目标,但对生殖器官的影响可以扩展到其他身体系统。围产二乙基己烯雌酚(DES)暴露的小鼠表现出各种生殖器官异常。围产期DES暴露模型使我们对由暴露于雌激素和/或雌激素EDC引起的持续性生殖器官异常机制的理解有了更深入的了解。新生儿DES暴露小鼠阴道中的持续变化是由于雌激素受体的配体非依赖性转录激活而持续表达生长因子所致。发育调控基因,例如Wnt和Hox基因,也是胎儿期DES的靶标,改变的基因表达可以诱导生殖器官畸形。在这篇综述中,我们专注于女性生殖道和外部生殖器的发展,并讨论了了解雌激素和EDC对这些器官的破坏作用的最新进展。
  • 【感音神经性耳聋,生殖器异常,掌骨和meta骨4和5的突触和智力低下:第二例患者的描述和HOXD13的排除。】 复制标题 收藏 收藏
    DOI:10.1002/ajmg.a.30728 复制DOI
    作者列表:Mendioroz J,Fernández-Toral J,Suárez E,López-Grondona F,Kjaer KW,Bermejo E,Martínez-Frías ML
    BACKGROUND & AIMS: :In 1988 Pfeiffer and Kapferer reported on a patient with sensorineural deafness, psychomotor delay, hypospadias, cerebral manifestations, and bilateral synostosis of the 4th and 5th metacarpals and metatarsals. Synostosis of the 4th and 5th metacarpals and metatarsals is a very rare defect that has been described as an isolated Mendelian defect, as part of multiple congenital anomaly (MCA) patterns, and in different syndromes. Among a total of 2,023,155 liveborn infants in the Spanish Collaborative Study of Congenital Malformations (ECEMC), we observed only two cases with this type of metacarpal fusion, for a frequency of 1/1,011,577. One had the isolated defect, and the other one that we are describing here, had an MCA pattern similar to that described by Pfeiffer and Kapferer [1988]. We tested HOXD13 but did not find any mutations in exons and intron-exon boundaries. To our knowledge this case is the second one reported with this syndrome.
    背景与目标: :1988年,Pfeiffer和Kapferer报告了一名患有感音神经性耳聋,精神运动迟缓,尿道下裂,脑部表现以及第4和第5掌骨和meta骨双侧突触的患者。第4和第5掌骨和meta骨的突触是一种非常罕见的缺损,已被描述为孤立的孟德尔缺损,是多种先天性异常(MCA)模式的一部分,并存在于不同的综合征中。在西班牙先天性畸形合作研究(ECEMC)的总共2,023,155个活婴中,我们仅观察到2例这种类型的掌骨融合病例,发生频率为1 / 1,011,577。一个具有孤立的缺陷,我们在此描述的另一个具有类似于Pfeiffer和Kapferer [1988]所描述的MCA模式。我们测试了HOXD13,但未在外显子和内含子-外显子边界中发现任何突变。据我们所知,该病例是第二例患有该综合征的病例。
  • 【圆顶冰屋样的包皮:生殖器平滑肌错构瘤的一个特殊方面?】 复制标题 收藏 收藏
    DOI:10.1111/j.0303-6987.2005.00288.x 复制DOI
    作者列表:Sbano P,Sbano E,Alessandrini C,Criscuolo M,Fimiani M
    BACKGROUND & AIMS: :We report the case of a 16-year-old boy with 'igloo-like prepuce' and hypospadia, successfully treated by asymmetrical antero-posterior postectomy. Histopathological examination consisting of classical microscopy, immuno-histochemistry and electronmicroscopy of the surgical material provided insights into the etiopathogenesis of this rare disease.
    背景与目标: :我们报告了一名16岁男孩患有“圆顶屋样的包皮过长”和尿道下裂的病例,该病经不对称前后前后切除术成功治疗。由手术材料的经典显微镜,免疫组织化学和电子显微镜组成的组织病理学检查为这种罕见疾病的发病机理提供了见识。
  • 【血缘双亲胎儿的多态性,Campolialia,模棱两可的生殖器,囊性增生性肾脏和脑畸形:新的多形畸形综合症,还是IV型严重的口-面-数字综合症?】 复制标题 收藏 收藏
    DOI:10.1002/ajmg.1320490211 复制DOI
    作者列表:Adès LC,Clapton WK,Morphett A,Morris LL,Haan EA
    BACKGROUND & AIMS: :We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.
    背景与目标: :我们描述了一个27周胎儿,其枕骨裂,多指,Campolia 、,裂,喉发育不良,眼球状结肠癌,肝纤维化和肝内囊肿,生殖器模棱两可,囊性增生性肾脏和脑畸形。这种异常模式显得独特。讨论了鉴别诊断。父母是近亲,使得常染色体隐性遗传成为可能。
  • 【花生四烯酸级联参与睾丸激素对小鼠胚胎外部生殖器的男性化作用。】 复制标题 收藏 收藏
    DOI:10.1073/pnas.83.12.4346 复制DOI
    作者列表:Gupta C,Goldman AS
    BACKGROUND & AIMS: :We have evaluated whether the arachidonic acid cascade may be involved in the folding and fusion of the penis and scrotum in masculine differentiation, a possibility raised by recent observations of the involvement of the arachidonic acid cascade in the analogous embryonic processes of elevation and fusion of the palatal shelves and of folding and fusion of the neural tube. To test this hypothesis, during embryonic masculine differentiation in mice of the B10.A strain, we administered certain agents that produce blockade of masculinization. We report that arachidonic acid can reverse the inhibition of masculine development in male embryos produced by estradiol-17 beta or by cyproterone acetate, an androgen receptor-site blocker, and that such reversal can be prevented by an inhibitor of cyclooxygenase, such as indomethacin. We have also found that agents that block the arachidonic acid cascade at the level of phospholipase A2 (cortisone, phenytoin) or at the level of cyclooxygenase (indomethacin, aspirin) also block masculine differentiation and that such antimasculinization is reversed by arachidonic acid. The masculinization of male embryos is inhibited by indomethacin and aspirin, and the masculinization of female embryos produced by exogenous testosterone is prevented by indomethacin. These findings provide evidence that the mechanism by which testosterone organizes the genitalia involves a role of the arachidonic acid cascade leading to prostaglandins at a critical period of development and that interference with testosterone synthesis or action leads to a teratogenic deficiency of arachidonic acid during this time in the genital anlagen.
    背景与目标: :我们已经评估了花生四烯酸级联是否可能参与了男性分化中的阴茎和阴囊的折叠和融合,这是由于最近观察到的花生四烯酸级联参与了类似的胚胎抬高和融合过程中提出的可能性。 lat架以及神经管的折叠和融合。为了验证这一假设,在B10.A品系小鼠的胚胎男性分化过程中,我们施用了某些会导致男性化障碍的药物。我们报告说花生四烯酸可以逆转由雌二醇17β或环丙孕酮(一种雄激素受体位阻滞剂)产生的雄性胚胎中男性发育的抑制作用,并且这种逆转可以通过环氧合酶抑制剂(如吲哚美辛)来预防。我们还发现,在磷脂酶A2(可的松,苯妥英)水平或在环氧合酶(吲哚美辛,阿司匹林)水平上阻断花生四烯酸级联的药物也可以阻断男性分化,并且花生四烯酸逆转了这种抗男性化作用。消炎痛和阿司匹林抑制男性胚胎的男性化,消炎痛阻止外源性睾丸激素产生的雌性胚胎的男性化。这些发现提供了证据,表明睾丸激素组织生殖器的机制涉及花生四烯酸级联作用,从而在发育的关键时期导致前列腺素,并且干扰睾丸激素的合成或作用会导致花生四烯酸在这段时间内的致畸性缺乏。生殖器anlagen。
  • 【生殖器模棱两可:影响沙特阿拉伯管理的医学,社会文化和宗教因素。】 复制标题 收藏 收藏
    DOI:10.1080/02724936.1991.11747526 复制DOI
    作者列表:Abdullah MA,Katugampola M,al-Habib S,al-Jurayyan N,al-Samarrai A,Al-Nuaim A,Patel PJ,Niazi M
    BACKGROUND & AIMS: :Twenty-eight children with ambiguous genitalia were seen at King Khalid University Hospital over a 6-year period. The incidence of this disorder was 0.4/1000 live births. Of the total, 21 (75%) were Saudis and seven (25%) were non-Saudis. The consanguinity rate was 67.9%. Twenty-four (85.7%) were born in hospital and four (14.3%) at home. In only three (10.7%) was the news first broken to the parents by a senior doctor, in 13 (46.4%) by a junior doctor, and in 11 (39.3%) by a nurse. Ambiguous genitalia were observed in 22 (78.6%) at birth and in six (21.4%) were picked up later. Owing to a lack of immediate investigative facilities and for some socio-cultural reasons, 19 of the latter groups were assigned sex without prior investigations. There was an obvious preference to assign male sex. On investigation, 13 (46.4%) had XX chromosomes, 11 (39%) XY and one (3.6%) XO: in three (10.7%), chromosomal results were not available. There were 14 cases (50%) of congenital adrenal hyperplasia, two of 5-alpha reductase deficiency (7.1%), and five of testicular feminization syndrome (17.9%), in addition to others. After investigation, five (17.9%) of the children needed sex reassignment. This was accepted by two and rejected for socio-cultural reasons by three. The opinion of the religious leaders was obtained. Some recommendations on management of these cases are made, based on our local experience.
    背景与目标: :在6年的时间里,有28名生殖器模棱两可的儿童在哈立德国王大学医院就诊。该疾病的发生率是0.4 / 1000活产婴儿。在总数中,有21个(75%)是沙特人,而有七个(25%)是非沙特人。血亲率为67.9%。二十四岁(85.7%)出生在医院,四岁(14.3%)在家中出生。只有三名(10.7%)的新闻是由高级医生首先向父母发布的,其中十三名(46.4%)是由初级医生发布的,十一名(39.3%)由护士发布。出生时有22名(78.6%)出现生殖器歧义,后来有6名(21.4%)被发现。由于缺乏立即的调查设施,并且由于某些社会文化原因,后19个群体被分配了性别,而没有事先调查。显然倾向于分配男性性别。经调查,有13条(46.4%)的XX染色体,11条(39%)的XY和1条(3.6%)的XO:三分之二(10.7%)的染色体结果不可用。先天性肾上腺皮质增生症14例(50%),其中5-α还原酶缺乏症2例(7.1%),睾丸女性化综合征5例(17.9%)。经过调查,其中有五名(17.9%)儿童需要重新分配性别。这被两个人接受,由于社会文化原因被三个人拒绝。获得了宗教领袖的意见。根据我们当地的经验,提出了一些处理这些案件的建议。
  • 【外生殖器形成:成纤维细胞生长因子,维甲酸信号和尿道远端上皮的作用。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Ogino Y,Suzuki K,Haraguchi R,Satoh Y,Dolle P,Yamada G
    BACKGROUND & AIMS: The process of fetal external genitalia development might be divided into two processes. The first process accomplishes the initial outgrowth of the anlage, genital tubercle (GT). Previous analysis suggests that the distal urethral epithelium (DUE) of the GT, the Fgf8-expressing region, regulates the outgrowth of the GT. The second process eventually generates the sexually dimorphic development of the external genitalia, which is dependent on the action of steroid hormones. Several key genes, for example, RARs, RXRs, RALDH2, and CYP26, were dynamically expressed during GT development. The teratogenic dose of RA at 9.0 d.p.c. induced a drastic malformation of the urethral plate during GT formation, but did not show gross abnormalities in its outgrowth. In RA-treated embryos, Fgf8 expression was still detected in the distal GT regions. Possible regulatory roles of the FGF and RA signaling systems in external genitalia formation are discussed.

    背景与目标: 胎儿外生殖器发育的过程可以分为两个过程。第一个过程完成了肛门生殖器结节(GT)的初始生长。先前的分析表明,GT的远端尿道上皮(DUE)(表达Fgf8的区域)调节了GT的生长。第二个过程最终产生外部生殖器的性二形发育,这取决于类固醇激素的作用。 GT开发过程中动态表达了几个关键基因,例如RAR,RXR,RALDH2和CYP26。 RA的致畸剂量为9.0d.p.c。在GT形成过程中引起尿道板的严重畸形,但未显示出明显的异常生长。在RA治疗的胚胎中,在远端GT区域仍检测到Fgf8表达。讨论了FGF和RA信号系统在外生殖器形成中的可能调控作用。

  • 【在46,XY位个体中,阴部阴囊尿道下裂不明确的生殖器:长期的医疗,手术和性关系。】 复制标题 收藏 收藏
    DOI:10.1542/peds.110.3.e31 复制DOI
    作者列表:Migeon CJ,Wisniewski AB,Gearhart JP,Meyer-Bahlburg HF,Rock JA,Brown TR,Casella SJ,Maret A,Ngai KM,Money J,Berkovitz GD
    BACKGROUND & AIMS: OBJECTIVES:To identify and study adults (21 years or older) who have a 46,XY karyotype and presented as infants or children with genital ambiguity, including a small phallus and perineoscrotal hypospadias, reared male or female. METHODS:Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Long-term medical and surgical outcome was assessed with a written questionnaire and physical examination. Long-term psychosexual development was assessed with a written questionnaire and semistructured interview. RESULTS:Thirty-nine (72%) of 54 eligible patients participated. The cause underlying genital ambiguity of participants included partial androgen insensitivity syndrome (n = 14; 5 men and 9 women), partial gonadal dysgenesis (n = 11; 7 men and 4 women), and other intersex conditions. Men had significantly more genital surgeries (mean: 5.8) than women (mean: 2.1), and physician-rated cosmetic appearance of the genitalia was significantly worse for men than for women. The majority of participants were satisfied with their body image, and men and women did not differ on this measure. Most men (90%) and women (83%) had sexual experience with a partner. Men and women did not differ in their satisfaction with their sexual function. The majority of participants were exclusively heterosexual, and men considered themselves to be masculine and women considered themselves to be feminine. Finally, 23% of participants (5 men and 4 women) were dissatisfied with their sex of rearing determined by their parents and physicians. CONCLUSIONS:Either male or female sex of rearing can lead to successful long-term outcome for the majority of cases of severe genital ambiguity in 46,XY individuals. We discuss factors that should be considered by parents and physicians when deciding on a sex of rearing for such infants.
    背景与目标: 目的:鉴定和研究成年人(21岁或以上),具有46,XY核型,并表现为婴儿或有生殖器歧义的儿童,包括小阴茎和阴囊阴囊尿道下裂,男性或女性饲养。
    方法:根据医学和手术记录对参与者的两性状况进行归类,对参与者进行分类。通过书面调查表和体格检查评估长期的医学和外科手术结局。通过书面问卷和半结构式访谈评估了长期的性行为发展。
    结果:54名符合条件的患者中有39名(72%)参加了研究。参与者生殖器歧义的潜在原因包括部分雄激素不敏感综合征(n = 14; 5名男性和9名女性),部分性腺发育不全(n = 11; 7名男性和4名女性)以及其他两性状况。男性进行的生殖器手术明显多于女性(平均:5.8)(平均:2.1),医师评定的男性生殖器美容外观明显差于女性。大多数参与者对他们的身体形象感到满意,并且男人和女人在这一指标上没有不同。大多数男性(90%)和女性(83%)都曾与伴侣发生过性行为。男女对性功能的满意度没有差异。大多数参与者完全是异性恋,男人认为自己是男性,女人认为自己是女性。最后,有23%的参与者(5名男性和4名女性)对他们的父母和医生确定的饲养性别不满意。
    结论:对于46,XY个人中的大多数严重生殖器歧义病例,无论性别是男性还是女性均可成功获得长期结果。我们讨论了父母和医师在确定此类婴儿的性别时应考虑的因素。
  • 11 Ambiguous genitalia: A rare case report. 复制标题 收藏 收藏

    【生殖器模棱两可:罕见病例报告。】 复制标题 收藏 收藏
    DOI:10.4103/0377-4929.178229 复制DOI
    作者列表:Agarwal PK,Ali M,Ranjan R,Pandey A
    BACKGROUND & AIMS: :Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development (DSD). A seven-year-old child with vagina and an elongated clitoris looking like a penile part of male external genitalia, presented in the Paediatric Surgery Department. Ultrasound of pelvis revealed a streak ovary on the right side and ovotestis on the left side. Uterus was not visualized. Karyotyping revealed 46, XY/45, XO genotype. Laparoscopic gonadectomy with vaginoplasty and the clitoral reduction was performed. A thorough histopathological examination of the specimen revealed structure of ovotestis-consisting of the ovary with Graafian follicles, fallopian tube, infantile testis with Leydig and Sertoli cells, epididymis, vas deference, and pampiniform plexus. Presence of Graafian follicle in the ovary, Leydig and Sertoli cells in the testis, at this age makes this case extremely interesting. The child was rehabilitated to lead her life as a girl.
    背景与目标: :性腺混合发育不良(MGD)是一种罕见的性发育障碍(DSD)。小儿外科介绍了一个七岁的孩子,有阴道和细长的阴蒂,看起来像是男性外生殖器的阴茎部分。骨盆超声检查显示右侧有条状卵巢,左侧有卵睾丸。子宫不可见。核型分析显示46,XY / 45,XO基因型。进行腹腔镜性腺切除术,阴道成形术和阴蒂复位术。对该标本进行彻底的组织病理学检查,发现包含卵形睾丸的卵巢结构包括卵巢囊,输卵管,具有睾丸间质细胞和睾丸支持细胞的婴儿睾丸,附睾,输精管和绒毛状丛。在这个年龄,卵巢中存在Graafian卵泡,睾丸中存在Leydig和Sertoli细胞,这种情况非常有趣。这个孩子已经康复,过着小时候的生活。
  • 【痔切除术后的男性生殖器气肿。】 复制标题 收藏 收藏
    DOI:10.1016/0090-4295(75)90119-3 复制DOI
    作者列表:Shiraki IW,Sakai CS
    BACKGROUND & AIMS: This is a case report of genital emphysema following a hemorrhoidectomy. The case resolved itself spontaneously without surgery or antibiotics.

    背景与目标: 这是痔切除术后生殖器气肿的一例报道。该病例无需手术或使用抗生素即可自发解决。

  • 【种子甲虫中有害的雄性生殖器和雌性抗性之间的共同进化。】 复制标题 收藏 收藏
    DOI:10.1073/pnas.0701170104 复制DOI
    作者列表:Rönn J,Katvala M,Arnqvist G
    BACKGROUND & AIMS: :Reproductive conflict between the sexes is thought to be a key force in the evolution of many reproductive characters, but persuasive evidence for its significance is still scarce. The spectacular evolution of male genitalia that impose physical injury on females during mating has often been suggested to be a product of sexually antagonistic coevolution, but our understanding of these extraordinary adaptations is very limited, and there are no direct data addressing their evolutionary elaboration. We show that more spiny male genitalia causes more harm to females during copulation and provide comparative evidence for the correlated evolution between these antagonistic adaptations in males and a female counteradaptation (the amount of connective tissue in the copulatory duct) in a group of insects. By combining comparative and experimental methods, we demonstrate that imbalance of relative armament of the sexes affects evolution of the economics of reproduction: as males evolve genitalia that are more harmful relative to the level of female counteradaptation, costs associated with mating for females increase and population fitness is depressed. Our results unveil a coevolutionary arms race between the sexes and are consistent with a proposed link between sexual conflict, species' viability, and the risk of extinction.
    背景与目标: :两性之间的生殖冲突被认为是许多生殖特征演变的关键因素,但其重要性的说服力证据仍然很少。通常认为,雄性生殖器在交配过程中对女性造成身体伤害的惊人演变是性拮抗协同进化的产物,但我们对这些非凡适应的理解非常有限,尚无直接数据说明其进化过程。我们表明,更多的多刺的男性生殖器在交配过程中对女性造成更大的伤害,并为雄性中这些拮抗性适应与一组昆虫中的雌性反适应(交配管道中结缔组织的数量)之间的相关进化提供了比较证据。通过比较和实验方法的结合,我们证明性别相对武器的不平衡会影响生殖经济学的演变:随着男性进化出生殖器官,相对于女性的反适应水平而言,这种生殖器官的危害更大,与女性交配相关的成本增加,人口增加健身很沮丧。我们的研究结果揭示了性别之间的共同进化军备竞赛,并且与性冲突,物种生存力和灭绝风险之间的拟议联系相一致。
  • 【蜘蛛和昆虫中不对称生殖器的演变。】 复制标题 收藏 收藏
    DOI:10.1111/j.1469-185X.2007.00029.x 复制DOI
    作者列表:Huber BA,Sinclair BJ,Schmitt M
    BACKGROUND & AIMS: :Asymmetries are a pervading phenomenon in otherwise bilaterally symmetric organisms and recent studies have highlighted their potential impact on our understanding of fundamental evolutionary processes like the evolution of development and the selection for morphological novelties caused by behavioural changes. One character system that is particularly promising in this respect is animal genitalia because (1) asymmetries in genitalia have evolved many times convergently, and (2) the taxonomic literature provides a tremendous amount of comparative data on these organs. This review is an attempt to focus attention on this promising but neglected topic by summarizing what we know about insect genital asymmetries, and by contrasting this with the situation in spiders, a group in which genital asymmetries are rare. In spiders, only four independent origins of genital asymmetry are known, two in Theridiidae (Tidarren/Echinotheridion, Asygyna) and two in Pholcidae (Metagonia, Kaliana). In insects, on the other hand, genital asymmetry is a widespread and common phenomenon. In some insect orders or superorders, genital asymmetry is in the groundplan (e.g. Dictyoptera, Embiidina, Phasmatodea), in others it has evolved multiple times convergently (e.g. Coleoptera, Diptera, Heteroptera, Lepidoptera). Surprisingly, the huge but widely scattered information has not been reviewed for over 70 years. We combine data from studies on taxonomy, mating behaviour, genital mechanics, and phylogeny, to explain why genital asymmetry is so common in insects but so rare in spiders. We identify further fundamental differences between spider and insect genital asymmetries: (1) in most spiders, the direction of asymmetry is random, in most insects it is fixed; (2) in most spiders, asymmetry evolved first (or only) in the female while in insects genital asymmetry is overwhelmingly limited to the male. We thus propose that sexual selection has played a crucial role in the evolution of insect genital asymmetry, via a route that is accessible to insects but not to spiders. The centerpiece in this insect route to asymmetry is changes in mating position. Available evidence strongly suggests that the plesiomorphic neopteran mating position is a female-above position. Changes to male-dominated positions have occurred frequently, and some of the resulting positions require abdominal twisting, flexing, and asymmetric contact between male and female genitalia. Insects with their median unpaired sperm transfer organ may adopt a one-sided asymmetric position and still transfer the whole amount of sperm. Spiders with their paired sperm transfer organs can only mate in symmetrical or alternating two-sided positions without foregoing transfer of half of their sperm. We propose several hypotheses regarding the evolution of genital asymmetry. One explains morphological asymmetry as a mechanical compensation for evolutionary and behavioural changes of mating position. The morphological asymmetry per se is not advantageous, but rather the newly adopted mating position is. The second hypothesis predicts a split of functions between right and left sides. In contrast to the previous hypothesis, morphological asymmetry per se is advantageous. A third hypothesis evokes internal space constraints that favour asymmetric placement and morphology of internal organs and may secondarily affect the genitalia. Further hypotheses appear supported by a few exceptional cases only.
    背景与目标: :不对称现象在其他情况下是双向对称的生物中普遍存在,最近的研究强调了它们对我们对基本进化过程的理解的潜在影响,这些进化过程包括发展的演变以及行为改变引起的形态学新颖性的选择。在这方面特别有希望的一种字符系统是动物生殖器,因为(1)生殖器中的不对称性已经收敛了许多次,并且(2)分类文献提供了有关这些器官的大量比较数据。这篇综述试图通过总结我们对昆虫生殖器不对称性的了解,并将其与蜘蛛(生殖器不对称性很少见的人群)的情况进行对比来集中精力于这个有前途但被忽视的话题。在蜘蛛中,只有四个独立的生殖器不对称起源是已知的,两个在Theridiidae(Tidarren / Echinotheridion,Asygyna)和两个在Polcidae(Metagonia,Kaliana)。另一方面,在昆虫中,生殖器不对称是普遍且普遍的现象。在某些昆虫纲或超纲动物中,生殖器不对称性存在于平面图中(例如鳞翅目,Embiidina,Phasmatodea),而在另一些昆虫中,它已经收敛了多次(例如鞘翅目,双翅目,异翅目,鳞翅目)。令人惊讶的是,巨大却分散的信息已经有70多年没有被审查了。我们结合分类学,交配行为,生殖器力学和系统发育研究的数据,以解释为什么生殖器非对称性在昆虫中如此普遍而在蜘蛛中如此罕见的原因。我们确定蜘蛛和昆虫生殖器不对称之间的进一步根本区别:(1)在大多数蜘蛛中,不对称的方向是随机的,在大多数昆虫中,它是固定的; (2)在大多数蜘蛛中,不对称首先在雌性中发展(或仅在雌性中发展),而在昆虫中,生殖器不对称主要限于雄性。因此,我们提出,性选择通过昆虫可接触但蜘蛛不可接触的途径在昆虫生殖器官不对称性的进化中起着至关重要的作用。这种不对称昆虫路径的核心是交配位置的变化。现有证据有力地表明,拟异形opter蝶交配位置是雌性以上的位置。男性主导的位置经常发生变化,某些位置需要腹部扭转,弯曲以及男性和女性生殖器之间的不对称接触。具有不成对的精子转移器官的昆虫可能会采用单侧不对称的位置,但仍会转移整个精子。具有配对的精子转移器官的蜘蛛只能在对称或交替的两侧位置交配,而不会事先转移一半的精子。我们提出了关于生殖器不对称进化的几种假设。人们将形态不对称解释为对交配位置的进化和行为变化的机械补偿。形态上的不对称本身不是有利的,而是新采用的配合位置是有利的。第二个假设预测右侧和左侧之间的功能分离。与先前的假设相反,形态不对称本身是有利的。第三个假设引起了内部空间的约束,这种约束有利于内部器官的不对称放置和形态,进而可能影响生殖器。进一步的假设似乎仅受少数例外情况的支持。
  • 15 Involvement of male genitalia in leprosy. 复制标题 收藏 收藏

    【男性生殖器参与麻风病。】 复制标题 收藏 收藏
    DOI:10.5935/0305-7518.20010011 复制DOI
    作者列表:Kumar B,Kaur I,Rai R,Mandal SK,Sharma VK
    BACKGROUND & AIMS: :Four hundred and sixty-seven male patients with leprosy were screened for genital involvement. Genital lesions were observed in 6.6% of all male cases of leprosy. They were seen most frequently in lepromatous leprosy (25.8%), followed by borderline lepromatous (13.3%) and borderline tuberculoid (1.4%) leprosy.
    背景与目标: :对657例男性麻风患者的生殖器受累情况进行了筛查。在所有男性麻风病病例中,有6.6%观察到生殖器病变。他们在麻风病麻风中的发病率最高(25.8%),其次是交界性麻风病(13.3%)和交界性结核性麻风病(1.4%)。

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