超声诊断两性畸形1例

患者,女,22岁。因月经未潮行健康检查。体检:乳房发育丰满,腋毛、阴毛稀疏外阴呈完全女性,未扪及子宫,临床疑两性畸形申请B超检查。B超示:膀胱充盈,膀胱后方未见子宫声像,于左右髂窝见直径约3.0cm低回声团块,边界光整,内回声较均匀(图1)。超声提示:盆腔内未见子宫声像;左右髂窝低回声团(睾丸?);两性畸形待排,建议完善相关检查明确诊断。讨论两性畸形为先天性生殖器发育畸形的一种特殊类型。外生殖器出现两性畸形均是由于胚胎或胎儿在宫腔内接受过高或不足量的雄激素刺激所致。根据其发病原因不同,可将两性畸形分为3类:女性假两性畸形、男性假两性畸形和生殖腺发育异常。后者又包括真两性畸形、混合生殖腺发育不全和单纯型生殖腺发育不全3种类型。本病例为一年轻女性患者,22岁,月经未潮;体检示完全女性外阴,盆腔未扪及子宫,乳房发育丰满,腋毛、阴毛稀疏。B超提示:盆腔内无子宫;左右髂窝低回声团(睾丸?);两性畸形待排。病者随前往上级医院做染色体、激素水平检查,证实为男性假两性畸形。B超检查对本病例诊断有重要指导意义,超声检查进一步证实患者盆腔内未见子宫,双侧髂窝见低回声团,为临床确定诊疗方案指明了方向。超声诊断两性畸形1例@王滨$湖...     

Ovotesticular disorder of sex development with a prostatic gland and review of literature

Ovotesticular disorder of sex development (OTDSD) is a rare condition and defined as the presence of ovarian and testicular tissue in the same individual. Most of patients with OTDSD have female internal genital organs. In this report, we present a case in which, we demonstrated prostate tissue using endoscopic and radiologic methods in a 46-XX, sex determining region of the Y chromosome negative male phenotypic patient, with no female internal genitalia. Existence of prostate in an XX male without SRY is rarely seen and reveals a complete male phenotype. This finding is critical to figure out what happens in embryonal period.     

保留阴蒂头及背血管神经束的阴蒂成形术(附11例报告)

报告保留阴蒂头及其背血管神经束的阴蒂成形术11例。其中女性假两性畸形5例。男性假两性畸形及真两性畸形各3例,社会性别均为女性。11例术后效果均满意,呈现女性外生殖器有阴蒂的正常外观与功能。本文对阴蒂成形术的4种手术方法作了描述并加以讨论,认为以保留阴蒂头及其背血管神经束的阴蒂成形术效果最为满意。     

超声在两性畸形诊断中的应用价值

目的 探讨超声在两性畸形诊断中的临床应用价值.方法 回顾性分析了45例两性畸形患者的超声资料,并与临床资料进行对照.结果 45例临床病理结果:真两性畸形5例(11.1％),男性假两性畸形14例(31.1％),女性假两性畸形24例(53.3％),性腺发育不全2例(4.4％).超声诊断结果:真两性畸形4例,符合率80.0％;男性假两性畸形11例,符合率78.6％;女性假两性畸形20例,符合率83.3％;性腺发育不全1例,符合率50.0％.结论 超声检查不仅可以显示内生殖器官的有无,而且可观察、评价其部位、大小、形态、结构等,为临床诊断和治疗提供重要的影像学依据.     

两性畸形14例分析

14例两性畸形,13例接受手术治疗,其中2例更改社会性别。侧重讨论了治疗并建议将两性畸形分为三类。     

Self-fertility and uni-directional mating-type switching in Ceratocystis coerulescens, a filamentous ascomycete

Individual perithecia from selfings of most Ceratocystis species produce both self-fertile and self-sterile progeny, apparently due to uni-directional mating-type switching. In C. coerulescens, male-only mutants of otherwise hermaphroditic and self-fertile strains were self-sterile and were used in crossings to demonstrate that this species has two mating-types. Only MAT-2 strains are capable of selfing, and half of the progeny from a MAT-2 selfing are MAT-1. Male-only, MAT-2 mutants are self-sterile and cross only with MAT-1 strains. Similarly, self-fertile strains generally cross with only MAT-1 strains. MAT-1 strains only cross with MAT-2 strains and never self. It is hypothesized that the switch in mating-type during selfing is associated with a deletion of the MAT-2 gene. Received: 6 July 1996 / 25 March 1997     

外周血核型鉴定在泌尿科领域中的作用

自１９７４至１９９４年期间对院内外转来的３３９２例进行外周血核型鉴定。３３９２例中和泌尿科有关患者１１４１例，将其分为三大类：１．可疑染色体畸变者５２３例。２．外阴部男女难分者１９３例。３．男性不育或妻子患习惯性流产者４２５例，其畸变检出率分别为４１．９％，１３．５％，３．５％，总的畸变检出率２２．４％。核型鉴定对这三大类患者的重要性进行讨论。     

Comments on some genetic abnormalities of sex determination and sex differentiation in Homo sapiens

Man is a gonochoristic species with male hetero- and female homogamety. The basic plan of gonadal and genital development in both sexes is female unless testes are induced by H-Y antigen which is usually specified by the Y chromosome. Genitalia can develop in either direction in both sexes. In males testosterone produced by testicular Leydig cells causes Wolffian duct differentiation, and the anti-Müllerian hormone, produced by testicular Sertoli cells, causes Müllerian duct regression. Testosterone has to be converted to dihydrotestosterone by a 5a-reductase in endorgans to effect normal male external genital development. Individuals without gonads or with ovaries develop female genitalia—i.e. the female is the uninduced sex.Sex determination begins with parental meiosis and extends to the onset of normal gonadogenesis; sex differentiation includes all subsequent sex-developmental processes. Hermaphroditism, a rare condition, is a defect of the former process (gonadogenesis), pseudohermaphroditism, a relatively common condition of the latter (genital differentiation). Male sex development, being actively induced, is much more complicated than in females, and affords many more opportunities for mishap. Gonosomal aneuploidy rarely disturbs sex development; most intersexes have normal chromosomes. In order of frequency the most common disorders are: 1) hypospadias—technically a form of external male pseudohermaphroditism, but never referred to as such in clinical practice; 2) non-specific, secondary male pseudohermaphroditism in isolated form or as component manifestation of many malformation syndromes; 3) the adrenogenital syndrome in females. Though less common than hypospadias, the adrenogenital syndrome must always be considered first in order to save life and to prevent recurrence. Genetic abnormalities of sex determination and sex differentiation in man are discussed together with experimental data elucidating the normal processes.Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthdaySupported by DHEW/USPHS Grants GM 20130 and HD 12994-06 from the National Institutes of General Medical Sciences and Child Health and Human DevelopmentPaper presented at the Second Symposium on Clinical Genetics in Pediatrics, Johannes Gutenberg Universität, Mainz, Germany, July 1979, and published here with the gracious permission of Georg Thieme Verlag, Stuttgart     

9例真两性畸形的性腺病理特征

目的探讨真两性畸形的性腺病理特征及其与临床的关系。方法分析经组织学证实的９例真两性畸形病例的临床、病理资料及染色体核型。结果９例中，７例表型为女性，２例为男性（经治疗后成为女性表型）；年龄为５２１岁，平均１２６岁。卵睾体是９例中最常见的性腺类型，２例为双侧卵睾体、７例为单侧卵睾体（右侧５例、左侧２例）；６例另一侧性腺为卵巢，１例为睾丸，（位于腹股沟管内）。镜下观察，卵巢与卵睾体的卵巢组织均可见各级卵泡，２例（年龄分别为２０岁、２１岁）可见黄体；而睾丸与卵睾体的睾丸组织则有不同程度的发育不良。９例中，有２例手术后已妊娠。结论明了性腺病理特征，有助于合理选择本病的治疗方案