• 【通过微计算机断层扫描和扫描电子显微镜研究了黑虎虾(对虾)外生殖器的功能解剖。】 复制标题 收藏 收藏
    DOI:10.1002/jmor.20875 复制DOI
    作者列表:Feng T,Paterson B,Panagiotopoulou O,Green K,Mardon K,Johnston S
    BACKGROUND & AIMS: :Although artificial insemination has been used for decades in Penaeus monodon aquaculture, the interaction of male and female external genitalia during spermatophore transfer has not been fully documented. As a result, studying the functional anatomy of this process may help to better refine the insemination technique. The sexual act in penaeoid prawns is virtually impossible to observe directly; as a result, this study aimed to describe the functional anatomy and interaction of external genitalia, such as the petasma, appendices masculinae and genital papillae of the male, with that of the thelycum and genital lobes of the female, using a combination of micro-computed tomography and scanning electron microscopy. We hypothesise that the spermatophores are ejaculated into the ventromedial groove of the petasma and squeezed by abdominal flexure into the spermathecae of female's thelycum. During this process, the 'spike-like' setae observed on the petasma and appendices masculinae are speculated to control the transferring direction of the spermatophores. The approach of three dimensional remodelling and animation reported in this study may prove useful in the examination of further hypotheses related to the functional anatomy of external genitalia and/or appendages for other crustacean species.
    背景与目标: :尽管对虾对虾养殖已经使用了人工授精数十年,但尚未完全记录精子转移过程中雄性和雌性外生殖器的相互作用。结果,研究该过程的功能解剖可能有助于更好地完善授精技术。几乎无法直接观察到类对虾的性行为。因此,本研究旨在通过结合使用微型计算机断层扫描和扫描电子显微镜。我们假设精子射精射入了体状状的腹膜沟,并因腹部弯曲而被挤入女性食道的精囊。在此过程中,推测在花瓣和雄性阑尾上观察到的“穗状”刚毛可控制精原细胞的转移方向。这项研究中报道的三维重塑和动画方法可能被证明可用于检查与其他甲壳类动物的外生殖器和/或附属器官的功能解剖相关的进一步假设。
  • 【中性管理:取得了什么,需要什么。对Thyen等人的评论:德国出生时歧义生殖器的流行病学和初始处理(Horm Res 2006; 66:195-203)。】 复制标题 收藏 收藏
    DOI:10.1159/000094783 复制DOI
    作者列表:Rappaport R
    BACKGROUND & AIMS: -2
    背景与目标: -2
  • 【生殖器歧义婴儿的临床诊断规则。】 复制标题 收藏 收藏
    DOI:10.1046/j.1440-1754.2003.00179.x 复制DOI
    作者列表:Low Y,Hutson JM,Murdoch Childrens Research Institute Sex Study Group.
    BACKGROUND & AIMS: :Intersex disorders are rare and complex; yet, in each case of genital ambiguity, accurate and expeditious management is required of the clinician. This article reviews the embryology of sexual differentiation, from which some 'rules' of diagnosis are derived. A simplified approach to the interpretation of clinical signs in ambiguous genitalia is presented and discussed.
    背景与目标: :性间失调是罕见且复杂的;然而,在每种情况下,生殖器模棱两可都需要临床医生进行准确而迅速的处理。本文回顾了性别分化的胚胎学,从中得出了一些“诊断规则”。提出并讨论了歧义生殖器临床体征的简化解释方法。
  • 【生殖器模棱两可的患者存在Y染色体家族副中心倒置的细胞遗传学和分子研究。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Liou JD,Ma YY,Gibson LH,Su H,Charest N,Lau YF,Yang-Feng TL
    BACKGROUND & AIMS: :Here we describe the first reported case of a patient with a familial paracentric inversion in the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y chromosome YACs demonstrated that the inversion breakpoints of the patients and the father's Ys appear to be the same and lie within interval 5B of the Y chromosome. PCR and sequence analysis indicated that our patient carries a normal SRY gene. For an additional comparison of the patient's inv(Y) with the father, two other Y chromosome sequences were examined. Molecular studies of this familial inverted Y chromosome showed no differences in the ZFY and TSPY genes between the father and the patient suggesting that the short arm of our patient's inv(Y) is identical to that of the patient's father. Southern analysis using a probe of the DAX-1 gene indicated that a single copy of DSS (dosage sensitive sex reversal) locus was present in the patient. Our results suggest that the abnormal sexual development in our patient is likely attributable to (an)other mechanism(s) than mutation in the SRY gene and dosage alteration of the DAX-1 gene.
    背景与目标: :这里我们描述了第一例报道的Y染色体长臂家族性副中心倒置和生殖器不明确的患者。用Y染色体YAC进行的FISH分析表明,患者和父亲的Ys的倒转断裂点似乎相同,并且位于Y染色体的5B区间内。 PCR和序列分析表明我们的患者携带正常的SRY基因。为了进一步将患者的inv(Y)与父亲进行比较,还检查了另外两个Y染色体序列。对该家族反向Y染色体的分子研究表明,父亲与患者之间的ZFY和TSPY基因没有差异,这表明我们患者的inv(Y)的短臂与患者父亲的短臂相同。使用DAX-1基因探针进行的Southern分析表明,患者中存在单拷贝的DSS(剂量敏感的性逆转)基因座。我们的结果表明,我们患者异常的性发育很可能归因于SRY基因突变和DAX-1基因剂量改变以外的其他机制。
  • 【患有21-羟化酶缺乏症的女孩的外部生殖器病毒化程度似乎受雄激素受体基因中CAG重复的影响。】 复制标题 收藏 收藏
    DOI:10.1111/j.1365-2265.2007.03023.x 复制DOI
    作者列表:Rocha RO,Billerbeck AE,Pinto EM,Melo KF,Lin CJ,Longui CA,Mendonca BB,Bachega TA
    BACKGROUND & AIMS: BACKGROUND:Women with 21-hydroxylase deficiency present much variability in external genitalia virilization, even among those with similar impairments of 21-hydroxylase (21OH) activity. OBJECTIVE:To evaluate if the number of CAG (nCAG) repeats of the androgen receptor gene influences the degree of external genitalia virilization in women with CYP21A2 mutations, grouped according to impairment of 21OH activity. PATIENTS:The nCAG was determined in 106 congenital adrenal hyperplasia (CAH) patients and in 302 controls. The patients were divided, according to their CYP21A2 genotypes, into Groups A and B, which confer total and severe impairment of 21OH activity, respectively. METHODS:The inactivation pattern of the X-chromosome was studied through genomic DNA digestion with Hpa II. The CAG repeat region was amplified by polymerase chain reaction (PCR) and analysed by GeneScan. RESULTS:The nCAG and the frequency of severe skewed X-inactivation did not differ between normal women and patients. The nCAG median in genotype A was 20.7 (IQR 2.3) for Prader I + II, 22.5 (3.6) for Prader III and 21 (2.9) for Prader IV + V (P < 0.05 for Prader III and Prader IV + V). The nCAG median in genotype B was 21.3 (1.1) for Prader I + II, 20.5 (2.9) for Prader III and 22 (2.8) for Prader IV + V (P > 0.05). A significant difference was found regarding the nCAG median in patients presenting Prader III from genotypes A and B. CONCLUSIONS:We observed great variability in the degree of external genitalia virilization in both CYP21A2 genotypes, and we showed that the CAG repeats of the androgen receptor gene influences this phenotypic variability.
    背景与目标: 背景:缺乏21-羟化酶的女性在外生殖器生殖方面表现出很大的变异性,即使是那些具有类似21-羟化酶(21OH)活性受损的女性。
    目的:评估CYP21A2突变女性中雄激素受体基因的CAG(nCAG)重复数是否影响其外生殖器病毒化程度,并根据21OH活性受损进行分组。
    患者:nCAG是在106名先天性肾上腺皮质增生(CAH)患者和302名对照中确定的。根据他们的CYP21A2基因型将患者分为A组和B组,分别导致21OH活性的全面和严重损害。
    方法:通过Hpa II基因组DNA消化研究X染色体的失活模式。 CAG重复区通过聚合酶链反应(PCR)进行扩增,并通过GeneScan分析。
    结果:正常女性和患者的nCAG和严重偏斜的X-失活的频率没有差异。基因型A的nCAG中位数对于Prader I II是20.7(IQR 2.3),对于Prader III是22.5(3.6),对于Prader IV V是21(2.9)(对于Prader III和Prader IV V,P <0.05)。基因型B的nCAG中位数对于Prader I II是21.3(1.1),对于Prader III是20.5(2.9),对于Prader IV V是22(2.8)(P> 0.05)。发现来自基因型A和B的Prader III患者的nCAG中位数存在显着差异。
    结论:我们在两种CYP21A2基因型中观察到外部生殖器病毒化程度的巨大差异,并且我们表明雄激素受体基因的CAG重复影响了该表型变异性。
  • 【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。

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