2.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
		                        		
		                        			
		                        			Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
		                        		
		                        		
		                        		
		                        			3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
		                        			;
		                        		
		                        			Child
		                        			;
		                        		
		                        			China/epidemiology*
		                        			;
		                        		
		                        			Cryptorchidism/genetics*
		                        			;
		                        		
		                        			Disorders of Sex Development/genetics*
		                        			;
		                        		
		                        			Female
		                        			;
		                        		
		                        			Genital Diseases, Male
		                        			;
		                        		
		                        			Genotype
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Hypospadias/genetics*
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Membrane Proteins/genetics*
		                        			;
		                        		
		                        			Penis/abnormalities*
		                        			;
		                        		
		                        			Phenotype
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			Steroid 21-Hydroxylase/genetics*
		                        			
		                        		
		                        	
3.How Atypical Penile Curvature Influence Clinical Outcomes in Patients with Peyronie's Disease Receiving Collagenase Clostridium Histolyticum Therapy?
Andrea COCCI ; Fabrizio DI MAIDA ; Giorgio Ivan RUSSO ; Marina DI MAURO ; Gianmartin CITO ; Marco FALCONE ; Andrea MINERVINI ; Giovanni CACCIAMANI ; Riccardo CAMPI ; Andrea MARI ; Francesco SESSA ; Nicola MONDAINI
The World Journal of Men's Health 2020;38(1):78-84
		                        		
		                        			
		                        			penis and stretching at the urinary toilette time, two minutes each. Success was defined as a decrease in PC of ≥20° from baseline.RESULTS: Sixty-five patients were included in the analysis. Median age was 59.0 years (interquartile range [IQR], 53.0 to 63.0 years), median curvature 40.0° (IQR, 30.0° to 45.0°) median duration of the disease 12.0 years (IQR, 6.5 to 24.0 years). Fifty-three patients (81.54%) had ventral PC, 7 (10.77%) hourglass PC, and 5 (7.69%) shortening PC. Median changes of PC were −20.0 (IQR, −20.0 to −10.0; p<0.01) in ventral PC, −20.0 (IQR, −20.0 to 0; p<0.01) in hourglass and −15.0 (IQR, −15.0 to −15.0; p<0.01) in shortening PC. At Kruscal–Wallis test, significant differences between groups were not found. The rate of PC success was 56.60% (30/53) in ventral PC, 57.14% (4/7) in hourglass and 20.00% (1/5) in shortening PC (p=0.29). Treatment success was not influenced by characteristics of curvature (odds ratio=0.66; p=0.20).CONCLUSIONS: CCH intralesional injections could represent an effective therapeutic option for the conservative management of patients with atypical PC.]]>
		                        		
		                        		
		                        		
		                        			Clinical Protocols
		                        			;
		                        		
		                        			Collagenases
		                        			;
		                        		
		                        			Congenital Abnormalities
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Injections, Intralesional
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Microbial Collagenase
		                        			;
		                        		
		                        			Penile Induration
		                        			;
		                        		
		                        			Penis
		                        			;
		                        		
		                        			Retrospective Studies
		                        			
		                        		
		                        	
5.HPV infection of the external genitalia in men whose female partners have cervical HPV infection.
Lian-Jun PAN ; Jie-Hua MA ; Feng-Lei ZHANG ; Feng PAN ; Dan ZHAO ; Xing-Yuan ZHANG
National Journal of Andrology 2018;24(6):516-519
ObjectiveHuman papilloma virus (HPV) is a necessary cause of cervical cancer and is also closely related to penile cancer, oropharyngeal cancer, and anal cancer in males. However, few studies are reported on male HPV. This study aimed to investigate HPV infection of the external genitalia in men whose female partners have cervical HPV infection.
METHODSWe collected the relevant data on the male outpatients whose partners had cervical HPV infection in our Department of Urology and Andrology from August to December 2016. We obtained samples with nylon swabs from the glans penis, corona, inner layer of the prepuce and penile body and detected different types of HPV infection using the Hybribio HPV typing kit, PCR and membrane hybridization.
RESULTSValid data were collected from 140 males, which showed 83.5% of HPV infection of the external genitalia, including 60 cases of HPV6 (43.2%), 27 cases of HPV16 (19.4%), 14 cases of HPV39 (10.1%), 13 cases of HPV18 (9.4%), 13 cases of HPV58 (9.4%), and 13 cases of HPV52 (9.4%). Redundant prepuce was found in 75.5% of the males, but there was no statistically significant difference in the incidence rate of HPV infection between the normal and redundant prepuce groups (P > 0.05).
CONCLUSIONSMen who have the female partners with positive cervical HPV are at high risk of HPV infection and therefore need to be screened and treated so as to reduce HPV infection in both sexes.
Female ; Foreskin ; virology ; Genital Diseases, Female ; virology ; Genital Diseases, Male ; virology ; Human papillomavirus 16 ; isolation & purification ; Humans ; Male ; Papillomaviridae ; isolation & purification ; Papillomavirus Infections ; diagnosis ; Penile Neoplasms ; virology ; Penis ; abnormalities ; virology ; Phimosis ; virology ; Polymerase Chain Reaction ; Sexual Partners ; Specimen Handling ; Uterine Cervical Neoplasms ; virology
6.Surgical plane positioning with a disposable circumcision suture device for the treatment of phimosis and redundant prepuce.
You-Feng HAN ; He-Song JIANG ; Jiu-Lin WANG ; Wu CHONG ; Hai CHEN ; Zhi-Peng XU ; Yun CHEN
National Journal of Andrology 2018;24(5):404-408
ObjectiveTo investigate the clinical effects of circumcision by surgical plane positioning with a disposable circumcision suture device in the treatment of phimosis and redundant prepuce.
METHODSFrom September 2016 to June 2017, we treated 250 patients with phimosis or redundant prepuce, 127 by conventional circumcision (the control group) and the other 123 by surgical plane positioning with a disposable circumcision suture device (the observation group). We compared the operation time, intra-operative bleeding, preputial frenulum alignment, postoperative ecchymosis, and postoperative penile appearance between the two groups of patients.
RESULTSCompared with the controls, the patients in the observation group showed significantly longer operation time ([4.48 ± 1.18] vs [7.17 ± 1.42] min, P<0.05), lower rates of intra-operative frenulum bleeding (15.0% [19/127] vs 4.1% [5/123], P<0.05) and frenulum misalignment (26.8% [34/127] vs 0.8% [1/123], P<0.05), higher incidence of postoperative ecchymosis (41.7% [53/127] vs 21.1% [26/123], P<0.05), and higher satisfaction of the patients with the postoperative penile appearance (92.9% [18/127] vs 98.4% [121/123], P<0.05). However, no statistically significant difference was found between the control and observation groups in intra-operative non-frenulum bleeding (4.7% [6/127] vs 1.6% [2/123], P = 0.164).
CONCLUSIONSCircumcision by surgical plane positioning with a disposable circumcision suture device can effectively avoid preputial frenulum misalignment, reduce intra-operative bleeding, and improve postoperative penile appearance.
Circumcision, Male ; instrumentation ; Disposable Equipment ; Ecchymosis ; etiology ; Foreskin ; Humans ; Incidence ; Male ; Operative Time ; Penis ; abnormalities ; surgery ; Personal Satisfaction ; Phimosis ; surgery ; Postoperative Complications ; etiology ; Postoperative Period ; Suture Techniques ; instrumentation
7.Penoplasty with T-shaped incision and three-point fixation for concealed penis.
Guo-Yao WANG ; Ke-Rong WU ; Wei-Qi YIN ; Guan-Lin LIU
National Journal of Andrology 2018;24(4):335-339
ObjectiveTo search for a safe and effective method of penoplasty with low incidence of complications for concealed penis by evaluating penoplasty with T-shaped incision and three-point fixation in comparison with modified Devine's technique.
METHODSWe retrospectively analyzed 169 cases of concealed penis treated in our center by penoplasty with T-shaped incision and three-point fixation (group A, n = 110) or modified Devine's surgery (group B, n = 59). We compared the operation time, postoperative complications, and recurrence rate between the two groups of patients.
RESULTSOperations were successfully completed in all the cases, the urinary catheters removed at 3 days and the elastic bandages applied for 2 to 4 weeks. The patients were followed up for 4 to 12 months. The penis was satisfactorily exposed. The operative time was significantly shorter in group A than in B ([52.8 ± 6.9] vs [61.5 ± 10.6] min, P < 0.001), the postoperative complication rate was obviously lower in the former than in the latter (prepuce edema: 17.27% [19/110] vs 33.89% [20/59], P = 0.021; bleeding: 0.90% [1/110] vs 3.38% [2/59], P = 0.552; skin necrosis: 0.90% [1/110] vs 5.08% [3/59], P = 0.123; skin infection: 0.90% [1/110] vs 5.08% [3/59], P = 0.123), and so was the recurrence rate (0.90% [1/110] vs 6.77% [4/59], P = 0.032).
CONCLUSIONSPenoplasty with T-shaped incision and three-point fixation deserves to be popularized clinically for its advantages of minor invasion, clear exposure, reliable penile fixation, low incidence of postoperative complications and recurrence, and satisfactory outcomes.
Edema ; etiology ; Humans ; Male ; Operative Time ; Penis ; abnormalities ; surgery ; Postoperative Complications ; etiology ; Recurrence ; Retrospective Studies ; Surgical Wound ; Urinary Catheters
8.Collagenase Clostridium Histolyticum in the Treatment of Peyronie's Disease: Review of a Minimally Invasive Treatment Option.
Andrew T GABRIELSON ; Laith M ALZWERI ; Wayne JG HELLSTROM
The World Journal of Men's Health 2017;35(3):134-145
		                        		
		                        			
		                        			Peyronie's disease (PD) is an inflammatory disorder characterized by an abnormal collagen deposition in the tunica albuginea of the penis, leading to fibrous and non-compliant plaques that can impede normal erection. Although pharmacological treatments are available, only intralesional injection therapy and surgical reconstruction have demonstrated tangible clinical efficacy in the management of this condition. Intralesional injection of collagenase clostridium histolyticum (CCH) has come to the forefront of minimally invasive treatment of PD. In this review, the authors provide an update on the safety, efficacy, and indications for CCH. The efficacy of CCH will be assessed on the basis of improvement in the severity of penile fibrosis, curvature, and pain. Numerous well-designed clinical trials and post-approval studies involving more than 1,500 patients have consistently demonstrated the efficacy and tolerability of CCH in the treatment of PD. CCH significantly decreases penile curvature and plaque consistency, as well as improves quality of life. Post-approval studies continue to demonstrate the efficacy of CCH despite broader inclusion criteria for treatment, such as the case with acute phase disease and atypical plaque deformities (i.e., ventral plaques, hourglass narrowing). CCH continues to be the gold standard for non-surgical management of stable phase PD, in the absence of strong evidence supporting oral therapy agents and ongoing evaluation of extracorporeal shockwave therapy. However, recent studies are beginning to provide precedent for the use of CCH in the management of acute phase and atypical PD.
		                        		
		                        		
		                        		
		                        			Collagen
		                        			;
		                        		
		                        			Collagenases*
		                        			;
		                        		
		                        			Congenital Abnormalities
		                        			;
		                        		
		                        			Fibrosis
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Injections, Intralesional
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Microbial Collagenase*
		                        			;
		                        		
		                        			Penile Induration*
		                        			;
		                        		
		                        			Penis
		                        			;
		                        		
		                        			Quality of Life
		                        			;
		                        		
		                        			Treatment Outcome
		                        			;
		                        		
		                        			Urologic Diseases
		                        			
		                        		
		                        	
9.Traversing the vertical pedicle flap for the treatment of severely buried penis in children.
Xiang LIU ; Bo PENG ; Han CHU ; Chang-Kun MAO ; Xin YU ; Chao YANG ; Yong-Sheng CAO
National Journal of Andrology 2017;23(6):527-530
		                        		
		                        			Objective:
		                        			To assess the effect of traversing the vertical pedicle flap (TVPF) for the treatment of severely buried penis in children.
		                        		
		                        			METHODS:
		                        			Totally 43 children with severely buried penis underwentTVPF (n = 21)or modifiedShiraki surgery (control, n = 22) in our hospitalfrom February to December 2014. Wecompared the operation time, intra-operation blood loss, foreskin swelling time, and parents' satisfaction with penile appearance between the two groups.
		                        		
		                        			RESULTS:
		                        			No statistically significant differences were observed between the TVPFand control groups in the operation time ([45.0 ±6.8] vs [42.0 ±5.3] min, P>0.05) or intra-operation blood loss([5.0 ±1.2] vs [6.0 ±0.8] ml, P>0.05). The average foreskin swelling time was markedly shorter in the TVPFgroup than in the control ([9.0 ±2.3] vs [15.0 ±4.8] d, P<0.05)and the parents' satisfaction with penile appearancewas higher in the former than in the latter (95.23vs31.81 %, P<0.05). The elastic bandages were removedfor all the patientsat 3 days postoperatively, and 3 to 6-month follow-up revealed no penile retraction or relapse.
		                        		
		                        			CONCLUSIONS
		                        			The method of traversing the vertical pedicle flap is a feasible surgical option for the treatment of severely buried penis in children, which can make a rational use of the foreskin,remove the tight ring, and achieve a satisfactory appearance of the penis.
		                        		
		                        		
		                        		
		                        			Balanitis
		                        			;
		                        		
		                        			etiology
		                        			;
		                        		
		                        			Blood Loss, Surgical
		                        			;
		                        		
		                        			Child
		                        			;
		                        		
		                        			Foreskin
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Operative Time
		                        			;
		                        		
		                        			Penis
		                        			;
		                        		
		                        			abnormalities
		                        			;
		                        		
		                        			surgery
		                        			;
		                        		
		                        			Postoperative Complications
		                        			;
		                        		
		                        			etiology
		                        			;
		                        		
		                        			Postoperative Period
		                        			;
		                        		
		                        			Surgical Flaps
		                        			;
		                        		
		                        			transplantation
		                        			;
		                        		
		                        			Urologic Surgical Procedures, Male
		                        			;
		                        		
		                        			methods
		                        			
		                        		
		                        	
10.Embedding sutures of single inner- and outer-prepuce flap for the treatment of concealed penis: A report of 37 cases.
Xiao-Bo ZHU ; Xiang-Sheng ZHANG ; Xin CHEN ; Guo-Xiao CHEN ; De-Gang DING
National Journal of Andrology 2017;23(4):343-346
		                        		
		                        			Objective:
		                        			To evaluate the clinical effect of embedding sutures of single inner- and outer-prepuce flap in the treatment of concealed penis.
		                        		
		                        			METHODS:
		                        			This retrospective analysis included 37 cases of concealed penis treated by embedding sutures of single inner- and outer-prepuce flap between July 2011 and May 2015. Catheters were pulled out from the patients within 24 hours and the dressing removed about 1 week after surgery. All the patients were followed up for 12-24 months postoperatively for evaluation of the long-term outcomes of surgery.
		                        		
		                        			RESULTS:
		                        			One-stage wound healing was achieved in all the patients. No foreskin flap necrosis, inflammation, edema, voiding dysfunction, or painful erection was found during the follow-up. The penises were extended by 2-4 cm. No complications were observed axcept 8 cases of mild prepuce edema, which all subsided with 6 months postoperatively.
		                        		
		                        			CONCLUSIONS
		                        			Embedding sutures of single inner- and outer-prepuce flap, with the advantages of simple operation, rapid recovery and few complications, is a desirable surgical option for the treatment of concealed penis.
		                        		
		                        		
		                        		
		                        			Foreskin
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Penile Diseases
		                        			;
		                        		
		                        			surgery
		                        			;
		                        		
		                        			Penis
		                        			;
		                        		
		                        			abnormalities
		                        			;
		                        		
		                        			surgery
		                        			;
		                        		
		                        			Postoperative Complications
		                        			;
		                        		
		                        			pathology
		                        			;
		                        		
		                        			Reconstructive Surgical Procedures
		                        			;
		                        		
		                        			methods
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			Surgical Flaps
		                        			;
		                        		
		                        			pathology
		                        			;
		                        		
		                        			transplantation
		                        			;
		                        		
		                        			Suture Techniques
		                        			;
		                        		
		                        			Sutures
		                        			;
		                        		
		                        			Urologic Surgical Procedures, Male
		                        			;
		                        		
		                        			methods
		                        			;
		                        		
		                        			Wound Healing
		                        			
		                        		
		                        	
            
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