尿道下裂术后近期尿道瘘的相关危险因素分析

目的 分析尿道下裂术后近期尿道瘘的相关危险因素,以利于提高尿道下裂治愈率.方法 回顾分析本院2012年6月至2014年6月所收治的149例尿道下裂患儿,均为第一次行尿道成形术(尿道下裂Ⅰ型患儿除外).且各型之间的尿道成形术式均相同.统计近期尿道瘘发生率,设定尿道下裂类型、年龄、体重指数、手术季节、合并阴茎发育不良、合并睾丸发育不良、合并阴茎睾丸发育不良、合并阴囊发育不良、合并感染为危险因素.结果 149例尿道下裂成形术后患儿共并发近期尿瘘21例(占14.09％).统计分析显示近期尿道瘘发生率与尿道下裂类型、合并感染、年龄有显著关系而与其他因素没有显著关系.结论 尿瘘仍是尿道下裂成形术后最主要的并发症,尿道下裂术后近期尿道瘘受多种因素影响,除了手术方式外最重要的因素有尿道下裂类型、合并感染、年龄.     

荧光原位杂交技术检测河南地区472例尿道下裂患儿的分析

目的:分析472例尿道下裂患儿性染色体及SRY基因检测,探讨其与尿道下裂的遗传学效应。方法:采用荧光原位杂交(FISH)技术,检测患儿的性染色体和SRY基因[CSP X/CSP Y染色体着丝粒特异性探针及SRY(Yp11.2)/Yqh(DYZ1)基因探针]。结果:受检的472例患儿中,6例患儿出现异常,异常检出率为1.27%。结论:FISH技术对尿道下裂患儿潜在的基因异常有一定的诊断价值,对于结果有异常的患儿应再进行染色体核型分析及染色体微阵列技术检测。     

尿道下裂合并先天性上睑下垂的临床研究

目的 研究尿道下裂合并先天性上睑下垂的发病情况和两者的关联性. 方法 调查254例尿道下裂患儿上睑下垂的发病率和程度,与普通人群上睑下垂发病率进行比较,分析不同类型尿道下裂与上睑下垂发病率和程度的相关性. 结果 本组尿道下裂患儿合并先天性上睑下垂的发病率为4.72％ (12/254),高于普通人群的0.12％,差异有统计学意义(P＜0.05).重度上睑下垂5例,中度5例,轻度2例.后段型尿道下裂上睑下垂的发病率为8.51％ (8/94),高于前、中段型的2.50％(4/160),差异有统计学意义(P＜0.05).后段型尿道下裂重度上睑下垂的发病率为2.13％,与前、中段型尿道下裂的1.88％相比差异无统计学意义(P＞0.05). 结论 先天性上睑下垂是尿道下裂生殖系统外的常见合并畸形.尿道下裂的程度与上睑下垂的发病率呈正相关,与上睑下垂的程度无明显相关.2种疾病可能有共同的致病或易感因素.     

新生儿尿道下裂I期手术修复

目的:探讨I期手术治疗新生儿尿道下裂的可行性。方法:1998年5月~2004年6月,对16例新生儿先天性尿道下裂患儿实施了尿道下裂I期修复术,患儿年龄1~29 d,平均13 d;其中尿道下裂I型4例,II型8例,III型3例,IV型1例。结果:14例痊愈,1例尿道狭窄,1例尿瘘,I期手术成功率87.5%(14/16)。结论:在确保麻醉安全的前提下,如果病例选择适当,对新生儿尿道下裂实施I期修复术是可行的。     

先天性心脏病合并尿道下裂的临床研究

目的:研究先天性心脏病合并尿道下裂的发病情况和两者的关联性。方法:调查2002年1月至2012年12月我院先天性心脏病男性患儿中合并尿道下裂的发病率和程度,与普通人群尿道下裂发病率进行比较,并分析不同类型先天性心脏病与尿道下裂发病率和程度的相关性。结果:本组先天性心脏病男性患儿7 385例,合并尿道下裂者134例,总体发病率1.81%,高于普通人群的0.33%~0.40%,差异有统计学意义(P0.01)。其中房间隔缺损组(10/1 015,0.99%)与动脉导管未闭组(6/565,1.06%)尿道下裂发病率相对较低,而室间隔缺损组(65/3 275,1.98%)、法乐氏四联症组(17/770,2.21%)、大血管病变组(15/788,1.90%)和其他畸形组(21/972,2.16%)合并尿道下裂的发病率相对较高,差异有统计学意义(P均0.05)。不同先天性心脏病组合并尿道下裂的类型无显著差异(P0.05)。结论:尿道下裂是先天性心脏病男性患儿的常见合并畸形。不同类型的先天性心脏病合并尿道下裂的发病率也不同。两种疾病可能有共同的致病或易感因素。     

尿道下裂与扩大的前列腺囊

目的　探讨尿道下裂患者扩大的前列腺囊发生率及对尿道成形术的影响与处理方法。　方法　通过体检、尿道造影、尿道膀胱镜检查对 52例尿道下裂患者扩大的前列腺囊的发病率及程度 ,单纯尿道下裂与同时合并扩大的前列腺囊患者尿道成形术后尿瘘发生率进行分析。　结果　 52例中合并扩大的前列腺囊 1 6例 ,占 31 %。阴茎头型 5例、阴茎型 8例、阴茎阴囊型 2 0例、会阴型 1 9例 ,合并扩大的前列腺囊分别为 0、1、6、9例 ,且随尿道下裂严重程度的增加级别增高。术后尿瘘发生率单纯尿道下裂为 1 8.2 % ,合并扩大的前列腺囊者为 4 6 .7%。　结论　随尿道下裂程度增加 ,扩大的前列腺囊发生率及程度增加 ,术后尿瘘发生率亦逐渐增加。     

郑州地区491例隐匿性阴茎患儿细胞遗传学分析

目的:通过对本地区491例隐匿性阴茎患儿进行细胞遗传学分析,以了解此类患儿性染色体异常情况及所伴染色体病特点,为临床诊治提供资料.方法:回顾性分析本院2017年5月—2019年7月临床诊断为隐匿性阴茎的491例患儿的细胞遗传学资料.结果:在491例隐匿性阴茎患儿中,共发现性染色体异常9例,异常检出率为1.83％.其中克...     

Denis—Browne改良术治疗先天性尿道下裂

本院1981年～1987年对32例先天性尿道下裂行Denis—Browne改良术,疗效较好。现报道如下。 本组年龄2～20岁,平均10.3岁。学龄前手术16例。尿道下裂阴茎型11例,阴茎阴囊型19例,会阴型2例。32例中合并隐睾症5     

Y形阴囊皮瓣修复小儿重度尿道下裂12例报告

目的:探讨Y形阴囊皮瓣治疗小儿重度尿道下裂的适用范围和疗效。方法:背侧包皮不充裕的重度尿道下裂患儿12例,包括阴囊型7例,会阴型5例;合并阴茎阴囊不全转位11例,完全转位1例。年龄11个月～12岁,平均4.2岁。采用Y形阴囊皮瓣成形尿道并同期纠正阴茎阴囊转位。结果:平均随访2年,术后阴茎伸直及外观满意,尿道口位置正常。发生尿瘘4例(33.3%),尿道狭窄1例(8.3%),手术总成功率达58.3%。结论:Y形阴囊皮瓣适用于背侧包皮少的小儿重度尿道下裂的治疗,且能同期纠正阴茎阴囊转位,疗效肯定。     

带蒂包皮瓣和前尿道延伸术联合治疗尿道下裂

目的 探讨带蒂包皮瓣和前尿道延伸联合修复尿道下裂的效果。方法 对12倒尿道下裂患儿联合采用带蒂包皮瓣和前尿道延伸的方法一期修复。结果 12例均获随访1～7年,1例合并吻合口狭窄和瘘,1例吻合口狭窄,均经再次手术修复治愈。全部患儿阴茎发育良好,外观及功能满意。结论 带蒂包皮瓣和前尿道延伸联合法是治疗阴茎型和阴茎阴囊型尿道下裂的较好方法。     

男性不育症中染色体特殊核型

在男性不育症的遗传咨询门诊中，发现的染色体异常绝大多数为典型的４７，ＸＸＹＫｌｉｎｅｆｅｌｔｅｒ综合征，但我们也发现一些较为特殊的核型，其中多Ｘ及多Ｘ嵌合体的３例，Ｙ染色体结构异常及Ｙ染色体与常染色体易位２例；常染色体之间的平衡易位６例。本文讨论了染色体的异常与男性不育症之间的可能关系。     

A rare variant Klinefelter syndrome seen 40 years later: 47,X,del(Xq24),Y

Patients with Klinefelter syndrome (KS) show a typically 47,XXY karyotype; however, some variations have been observed, including 47,XX,der(Y), 46,XY/47,XXY, 48,XXXY, 48,XXYY, and mosaicism or structural sex chromosome abnormalities in some patients. In the literature, a rare KS variant, 47,X,del(Xq),Y karyotype, was reported in only a few cases prior to 1981. A 40-year-old man (IV-3) was referred to our department due to infertility. His phenotype did not differ from the classic KS phenotype. He had two siblings (1-male; 1-female). His brother (IV-5) had mental retardation and died one year earlier at age 32. Additionally, his sister (IV-2) also had a history of infertility due to her husband's azoospermia. His mother had a history of 12 miscarriages. Karyotype analysis revealed the 47,X,del(Xq24),Y karyotype, and no deletions were seen in the AZF and SRY regions. We thought this chromosomal abnormality in the patient might have resulted from X-autosome translocation in one of his parents since his mother had recurrent pregnancy loss and his sibling had mental retardation. However, we could not confirm it due to his parents were not alive. This study shows the first case of a long-arm X-chromosome deletion after a long period and reviews current knowledge concerning variant KS (deletion Xq).     

应用SRY基因检测性发育异常的研究

性分化异常与Ｙ染色体有直接的联系，而睾丸的发生与Ｙ染色体短臂上１Ａ１Ａ性别决定区（ＳＲＹ）基因密切相关。本文对表型男性的４６，ＸＸ和表型女性的４６，ＸＹ、４５，Ｘ／４６，Ｘ，ｔ（Ｙ；Ｙ）、４６，ＸＹ，表型女性盆腔肿瘤、４６，ＸＹ，外生殖器官及性腺发育异常、Ｘ染色体与常染色体易位的原发闭经等六个类型１６例病人应用ＰＣＲ技术进行ＳＲＹ基因的体外扩增检测。结果１２例ＳＲＹ阳性，４例ＳＲＹ阴性，为临床诊断治疗提供了依据。     

Detection of chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia

Objective:To investigate the chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia.Methods:Cytogenetic karyotype analysis and multiplex PCR were used to detect chromosomal abnormality and Y chromosome microdeletion in 99 azoospermic and 57 oligospermic patients(total 156).45 fertile men were includ-ed as controls.Results:31 patients were found with chromosomal abnormalities in 156 cases(31/156,19.9 %),20 cases showed 47,XXY,2 cases showed 46,XY/47,XXY,7 cases had Y chromosome structural abnormalities and 2 had autosomal chromosome abnormalities.There were significant differences between the frequency of AZF microde-letion in 125 cases with normal karyotype and 45 controls(P<0.01).The frequency of AZF microdeletion in 68 azoospermic and 57 oligospermic patients were 14.7%(10/68)and 15.8%(9/57)respectively,the difference was not significant(P>0.05).AZFa,AZFb,AZFa+b,AZFb+c,AZFa+b+d and AZFb+c+d mierodeletions were found in azoospermic patients.AZFb,AZFc,AZFd,AZFb+c+d and AZFc+d microdeletions were found in oligo-spermic patients.Conxlusion:The frequency of chromosomal abnormality was 19.9% and the frequency of Y chromosome mi-crodeletion was 15.2% in patient with azoospermia and oligozoospermia.We should pay close attention to this prob-lem.     

双色荧光原位杂交检测46,XY/47,XXY少精子症患者精子性染色体

目的 :观察 1例 4 6 ,XY/ 4 7,XXY少精子症患者精子性染色体分离的情况。　方法 :用双色荧光原位杂交技术对手淫取精液的精子进行X染色体和Y染色体数目检测。　结果 :受检的 10 0个精子中 ,X精子占 4 9% ,Y精子占 4 8% ,无杂交信号的精子占 3%。X精子与Y精子比例与预期值相同约为 1∶1。4 6 ,XY/ 4 7,XXY少精子症患者与正常对照男性所携带XX精子和XY精子频率比较无统计学差异。　结论 :可以用患者本人的精子进行卵细胞胞质内单精子注射以获得妊娠。     

Chromosomal abnormalities in patients with azoospermia in Western Mexico

In order to assess the frequency of chromosomal abnormalities in azoospermic males from western Mexico, we carried out a retrospective study in 227 patients. Forty-three (18.9%) cases with an abnormal karyotype were found. The most frequent chromosomal anomaly was 47,XXY, which was identified in 35 subjects (15.4%). In six cases (2.6%), structural aberrations were detected: two Robertsonian translocations [(45,XY,t(13;22)(p11;p11) and (45,XY,t(13;15)(p11;p11)], a Y;autosome translocation [46,XY,der(15)t(Y;15)(q12;p11)], and three mosaics [mos45,X/46,X,idic(Y)(q11)]. In general, these findings are in accordance with those from other surveys and confirm that the XXY aneuploidy is the most frequent chromosomal abnormality in azoospermic individuals.     

Chromosomal abnormalities and polymorphisms in infertile men

The aim of this study was to determine the prevalence of alterations and normal variable chromosome features in males from infertile couples. Karyotyping was performed to 84 men attending the infertility clinic at the Hospital Clinic i Provincial of Barcelona (Spain). Sex chromosome abnormalities were detected in 19 patients (26.62%): 14 (16.67%) aneuploidies 47,XXY and 47,XYY, 3 (3.57%) Y-chromosome long arm deletions; 1 (1.19%) mosaic 45,x/46,XY and 1 (1.19%) Robertsonian translocation (45.X-15-Y+t(15p: Yq). Chromosomal polymorphisms were observed in 29 patients. Yqh+ was the most frequent variant in sex chromosomes and increased length in heterochromatin and satellites were present in autosomal chromosomes. The high prevalence of chromosomal abnormalities observed in infertile men justify the use of karyotyping to evaluate males enrolled in new assisted reproductive technologies programs.     

Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long‐term outcomes

Ovotesticular disorder of sexual differentiation (OTDSD) is a rare cause of disorder of sexual differentiation predominantly having 46,XX karyotype, female phenotype and ambiguous genitalia. We report a 15‐year‐old having male body habitus, axillary and pubic hair, well‐developed penis and right‐descended testis with history of penoscrotal hypospadias correction, presenting with three episodes of cyclical haematuria, who biochemically had normal serum testosterone (338 ng dl^?1) which increased following hCG stimulation (614 ng dl^?1), elevated estradiol (17.35 pg ml^?1) along with elevated luteinising hormone (11.3 mIU l^?1) and follicle‐stimulating hormone (31 mIU l^?1). Ultrasonography followed by micturating cystourethrogram and cystoscopy confirmed the presence of prostate, uterus, cervix and vagina draining into the urogenital sinus continuing till the penile urethra and left intra‐abdominal gonad. Patient underwent hysterectomy and left gonadectomy. Histopathologic study of resected gonad confirmed presence of ovotestis. Low estradiol (1.2 pg ml^?1) following gonadectomy confirmed the ovotestis origin of estradiol. Chromosomal analysis revealed complex karyotype predominant being 47,XYY (50%) followed by 46,XY (26%) and 45,X (24%). This is perhaps the first report of 47,XYY/46,XY/45,X causing OTDSD in a phenotypic male.     

Chromosome abnormalities in hypospadias? An analysis of 131 patients]

We performed chromosome studies in 131 patients presenting with hypospadias, with the aim of detecting any causal connections between chromosomal abnormalities and the induction of hypospadias. Autosomal abnormalities were revealed in 6 and sex chromosomal abnormalities in 10 patients. Although a significant causal relationship between the occurrence of hypospadias and chromosomal abnormalities was seen in this study in only two cases of mixed gonadal dysgenesis (45,X/46,XY and streak gonad), the high incidence of chromosomal abnormalities observed (12.2%) seems noteworthy compared with the incidence of only 0.61% in the normal male population.