Disorders of sex development

Disorders of sex development (DSD) occur in 1–2/10,000 live births, with a specific molecular diagnosis only possible in 20% of cases. Presentation is usually at birth, and gender assignment must be avoided before review by an expert multidisciplinary team. Initial investigations allow a working diagnosis to be made within 48 hr. In 46,XY DSD, surgery may be necessary to correct hypospadias, reposition or remove undescended testes, and remove symptomatic Müllerian remnants. In 46,XX DSD, feminizing surgery is performed less frequently than in the past, but genitoplasty may still be indicated. Psychosocial support is required to promote positive adaptation as gender dissatisfaction can occur in certain conditions. Long-term outcome data are sparse.     

Dorsal inlay graft urethroplasty for primary hypospadiac repair

OBJECTIVE: Tubularized incised plate urethroplasty has become a popular technique for repairing distal and proximal hypospadias in many institutions. Dorsal inlay graft urethroplasty has been used in our institution since 2003 to reduce the risk of meatal stenosis. In the present study, we evaluated the results of the dorsal inlay graft procedure. METHODS: A total of 28 patients with no deep groove and no severe curvature underwent one-stage urethroplasty using an inner preputial-based dorsal inlay graft. The medical records of all patients were retrospectively reviewed with regard to complication rate and cosmetic appearance. RESULTS: Mean patient age at surgery was 21 months (range, 14 months to 4.6 years). Preoperatively the urethral meatus was coronal in two cases, distal shaft in 17, proximal shaft in six and penoscrotal in three. Nine patients required testosterone therapy before surgery. Mean operative time was 200 min (range, 154-249 min). Mean length of inlay graft was 20.9 mm (range, 12-30 mm). In all patients, a straight penis was achieved without dorsal plication of the corposa cavernosa, and the neomeatus with a slit-like appearance was positioned at the glans tip. At a mean of 22 months of follow up, a urethrocutaneous fistula developed in only one patient (3.6%), requiring repair surgery 6 months after urethroplasty. No patient had meatal stenosis, neourethral stricture or urethral diverticulum along the inlay graft. CONCLUSION: Dorsal inlay graft urethroplasty is an effective method for hypospadiac repair and leads to good cosmetic outcome with low risk of complications.     

Opitz (BBB/G) syndrome: Oral manifestations

We studied a new case of the G (Opitz BBB/G) syndrome in a 12-year-old boy. Several relatives had partial manifestations of the disorder. A comprehensive dental evaluation of the propositus was conducted; included is, to our knowledge, the first published cephalometric analysis of a G syndrome patient. We reviewed 139 cases of the G syndrome; 48 of them had at least one oral abnormality. These included clefting, micrognathia, ankyloglossia, and high-arched palate. Male G syndrome patients are more likely to have oral anomalies than affected females. © 1992 Wiley-Liss, Inc.     

98例尿道下裂手术的体会

目的通过对尿道下裂手术的改进,进一步完善尿道下裂手术的技巧和护理。方法A组50例尿道下裂Ⅰ期成形术中,采用皮下连续内翻缝合形成新尿道,且固定于阴茎海绵体,由阴茎根部自下而上多层次,多点缝合皮瓣皮下组织至阴茎海绵体上,均无间隙和死腔。B组48例采用常规手术方式作对照。结果A组50例尿道下裂Ⅰ期成形术成功44例,B组48例成功17例,A组与B组相比成功率显著提高(P＜0．05)。结论尿道下裂Ⅰ期成形术成功率关键在于术者对术式掌握的熟练程度和术中及术后对每个细节的认真处理。     

Single-stage repair of severe hypospadias using bladder mucosa graft

Our experience of single-stage repair of severe hypospadias (penoscrotal, scrotal, and perineal) in 30 children using urinary bladder mucosa for urethroplasty is reported. These children had severe chordee, small prepuce, and often ventral transposition of the penis with bifid scrotum where Devine and Horton, Asopa, or Duckett techniques are not so suitable. The graft uptake was uniformly satisfactory. Ten patients had complications; most of the fistulae healed spontaneously. Surgical intervention was required in 2 cases only: 1 for a fistula and another for a stricture with fistula. Meatal stenosis, seen in 4 cases, led to delayed distal fistulae in 2, which healed spontaneously with meatal dilatation. Regular dilatation of the external meatus is recommended to prevent this problem.     

胃管作尿道支撑引流管在尿道下裂中的应用

目的 评价单纯用胃管兼作尿道支撑管和引流管在尿道下裂尿道成形术中的作用。方法 回顾性分析新华医院1997年12月～2004年12月间收治的先天性尿道下裂患者，在做尿道成形手术中单纯应用胃管作尿道支撑引流管1176例，年龄6个月-20岁。未进行膀胱造瘘等尿液改道引流方法。结果 术后因发生尿瘘而需再次尿道成形术的113例（9．6％），尿道狭窄需再次手术成形的8例（0．7％），尿道裂开需尿道再成形的5例（0．4％）。结论 在尿道下裂尿道成形术中单纯用胃管兼作尿道支撑管和引流管引流尿液是充分有效的，无须另行尿流改道。     

显微外科技术及带蒂包皮岛状皮瓣法在尿道下裂治疗中的应用

目的总结应用显微外科及带蒂包皮皮瓣一期修复尿道下裂的经验,提高手术成功率。方法回顾性分析38例一期尿道下裂修复手术及术后并发症。患儿年龄3～22岁,平均7．5岁。阴茎头冠状沟型12例,阴茎体型19例,阴茎根部型7例,其中6例曾在院外行阴茎下屈矫正术。应用显微外科技术,单纯选择带蒂包皮岛状皮瓣法一期修复尿道下裂32例,联合应用Duplay术式6例。结果随访3个月～2年,35例患儿术后阴茎外观满意,排尿通畅,无明显并发症:术后发生尿瘘2例,再次手术后治愈。1例术后3月出现尿道外口狭窄,经尿道扩张治愈。手术成功率为94．7％。结论应用显微外科及带蒂包皮岛状皮瓣一期修复尿道下裂,成功率高,并发症少,是治疗尿道下裂的良好方法。     

显微外科技术在尿道下裂修复中的应用

采用显微外科技术行阴囊纵膈皮瓣尿道下裂修复术18例，均获成功。其手术要点为：将阴茎腹侧纤维索条切除，充分伸展阴茎，皮瓣保留足够长度与宽度，克保血运；在显微镜下采用7－0尼龙丝线缝合，形成皮管，不缝皮肤，只缝皮下。硅胶管支架引流，加压包扎阴茎。本文对手术成功的原因进行了初步讨论。     

尿道发育不良性阴茎弯曲的手术矫治

目的临床研究尿道发育不良性阴茎弯曲27例的手术方式和疗效。方法皮肤切口绕过菲薄尿道,脱蜕尿道表面阴茎皮肤,切断阴茎腹侧之深浅筋膜,伸直阴茎,手术不伤及尿道。结果27例阴茎下弯得以伸直,其中1例因留置橡胶导尿管导致阴茎部尿道狭窄,经尿扩治疗2年余,排尿尚通畅。结论采取保护菲薄尿道的切口脱蜕阴茎皮肤,切断增厚的阴茎筋膜能伸直Ⅰ型弯曲的阴茎。     

改良尿道板重建卷管尿道成形术与尿道板纵切卷管尿道成形术治疗儿童尿道下裂的疗效对比

目的 比较改良尿道板重建卷管尿道成形术（又称Koyanagi术）与尿道板纵切卷管尿道成形术（TIP）在儿童尿道下裂中的临床疗效。方法 回顾性分析2018年1月—2021年10月甘肃省妇幼保健院收治的104例尿道下裂患儿的临床资料,其中53例患儿行改良Koyanagi术（研究组）,51例患儿行TIP（对照组）。两组患儿术后均随访12个月。比较两组手术时间、术中出血量、术后疼痛及排尿功能、手术成功情况,对比两组术后并发症发生情况。结果 两组手术时间、术中出血量比较,差异均无统计学意义（P >0.05）。两组患儿术后4、12、24和48 h的FLACC评分比较,采用重复测量设计的方差分析,结果 ①不同时间点FLACC评分差异有统计学意义（F =10.871,P =0.000）;②研究组与对照组FLACC评分差异无统计学意义（F =1.849,P =0.157）;③研究组与对照组FLACC评分变化趋势差异无统计学意义（F =2.516,P =0.085）。两组患儿术后12个月的最大尿流率、平均尿流率、排尿量、尿流时间、手术成功率比较,差异均无统计学意义（P >0.05）。研究组术后总并发症发生率低于对照组（P <0.05）。结论 改良Koyanagi术与TIP治疗儿童尿道下裂疗效相近,均可获得满意效果,但改良Koyanagi术在降低术后并发症方面具有优势。