Introduction: Gangrene of the external genitalia organs (EGO) is a medico-surgical emergency that is still very common in Third World countries. The main etiologies are urogenital, dermocutaneous and proctological. Mo...Introduction: Gangrene of the external genitalia organs (EGO) is a medico-surgical emergency that is still very common in Third World countries. The main etiologies are urogenital, dermocutaneous and proctological. Mortality remains very high despite therapeutic advances. Our aim was to report on the epidemiological, diagnostic and therapeutic aspects of gangrene of the external genitalia, and to identify prognostic factors. Patients and Method: This was a 5-year retrospective descriptive study, from February 2016 to February 2021, of cases of gangrene of the external genitalia admitted to and treated in the Urology Department of Abeche University Hospital. Results: We collected 49 cases of gangrene of the external genitalia. The mean age of patients was 42 ± 16.81, with extremes of 20 and 81 years. The age group most concerned was between 20 and 29. The most frequent reasons for consultation were suppuration of the external genitalia and scrotal swelling. The average consultation time was 19.05 ± 16.02 days. The most common comorbidity was diabetes (35.9%). The most frequent pathological antecedents were urinary tract infections and endourethral maneuvers, reported in 40.5% and 38.7% respectively. Urogenital aetiology was predominant in 54.7%, and idiopathic in 35.9%. Lesions involved the scrotum in 60.6%, the scrotum and penis in 16.5%, and the penis alone in 5.7% of cases. Lesions extended to the perineum in 13.6% of cases, and to the abdomen in 3.6%. Vascular filling via the central venous line was performed in 58.6% of cases, and via the peripheral venous line in 41.4%. 3rd-generation cephalosporins and associated imidazoles were the most commonly used antibiotics. Necrosectomy was performed in 37 patients (73.4%), debridement combined with bypass cystostomy in 26.6% of cases. Colostomy was performed in 4% of cases. 90.8% of patients were cured and 9.2% died. The average hospital stay was 30 ± 75 days. Conclusion: The gangrene of the external genitalia is a medical and surgical emergency which has become rare in Europe, but which is still very common in the context of our practice in Chad. The severity of the disease is linked to delayed consultation and co-morbidity factors. Mortality remains very high despite therapeutic advances.展开更多
Objective: To study the etiology and differential diagnos is of ambiguous genitalia.Methods: One hundred and five cases of ambiguous genitalia with disorders of sexual differentiation were analyzed based on clinical c...Objective: To study the etiology and differential diagnos is of ambiguous genitalia.Methods: One hundred and five cases of ambiguous genitalia with disorders of sexual differentiation were analyzed based on clinical characterist ics and basic research. Results: Ambiguous genitalia are closely related to the functio n of androgen. It could be classified into 3 groups: androgen excess, androgen d eficiency and failure of gonadal differentiation. Differential diagnosis depends on clinical manifestations, chromosome examination, serum hormone determination s, final gonadal pathology, receptor study etc.Conclusion: Ambiguous genitalia are related to abnormal androgen ic effect and early correct etiological diagnosis is the key to its management.展开更多
The male genitalia of 13 species from four genera of Astathini were described and analyzed. The result showed that five genital characters, such as shape of the apex of 8th abdominal tergaum and sternum, ratio of the ...The male genitalia of 13 species from four genera of Astathini were described and analyzed. The result showed that five genital characters, such as shape of the apex of 8th abdominal tergaum and sternum, ratio of the length of lateral lobes to tegmen, can be used to identify genera of Astathini; six characters, such as ratio of the length of lateral lobes to tegmen, ratio of the length of roof to lateral lobes, shape of the apex of ventral plate of median lobe, can be used to identify species in Bacchisa.展开更多
A new record species of genus Aegosoma Serville, 1832 is reported from China. The male genitalia of seven species from the genus Aegosoma are described and compared. The result shows that 16 genital characters, such a...A new record species of genus Aegosoma Serville, 1832 is reported from China. The male genitalia of seven species from the genus Aegosoma are described and compared. The result shows that 16 genital characters, such as narrow position of the apex of parameres, ratio of length and width of parameres, curvature of tegmen, ratio of spiculum gastrale and spiculum relictum, ratio of penis and tegmen, ratio of median structs and median lobe, curvature of penis, ratio of tegmen and parameres etc., can be used to identify species of Aegosoma. A key to Chinese species of Aegosoma is presented.展开更多
Aim: Report the epidemiological, clinicopathological characteristics and ensuring management of recent traumas of the external genitalia in Urology. Methods: This was a descriptive retrospective study of 47 cases of p...Aim: Report the epidemiological, clinicopathological characteristics and ensuring management of recent traumas of the external genitalia in Urology. Methods: This was a descriptive retrospective study of 47 cases of patients suffering from recent traumas of the external genitalia over a period of 5 years. The variables studied were sociodemographic, clinical, paraclinical, therapeutic and evolutionary. Results: A total of 47 patients, including 46 men, were managed. The mean age was 26.8 years, ranging from 6 to 56 years. The circumstances of occurrence were: the missteps of coitus (n = 16), traffic accidents (n = 9) and criminal injuries (n = 8). The fracture of the penis (n = 16) was the most common lesion followed by the scrotal wound (n = 11). The management was medical and surgical and varied by the type of lesion. The outcome was favorable in 91.5% of cases. Conclusion: The incidence of traumas of the external genitalia was 9.4 in urology department in N'Djamena. Penis fracture was the frequent lesion. The management is multidisciplinary, medical and surgical.展开更多
We report a case of ambiguous genitalia in a 15-year-old patient to demonstrate input of medical imaging in the diagnosis and care of this rare congenital deformation. Disorders of sexual differentiation (DSD) have be...We report a case of ambiguous genitalia in a 15-year-old patient to demonstrate input of medical imaging in the diagnosis and care of this rare congenital deformation. Disorders of sexual differentiation (DSD) have been defined as congenital conditions in which development of chromosome, gonad, or anatomic sex is atypical and that raise an issue in the sex assignment. In lower socioeconomic countries where antenatal diagnosis is almost non-existent, due to lack of technical facilities, their medical and surgical management is hard. The case which we report was investigated by ultrasonography and genitography, which remains primary indications in our context.展开更多
Objective: To describe the clinical aspects and the management of external genitalia gangrene in the Urology department of the Bobo Dioulasso CHUSS. Patients and methods: This was a retrospective and descriptive study...Objective: To describe the clinical aspects and the management of external genitalia gangrene in the Urology department of the Bobo Dioulasso CHUSS. Patients and methods: This was a retrospective and descriptive study over a period of 6 years from January 2011 to December 2016, which covered 54 patients hospitalized in the urology department of the University Hospital Souro Sanou for external genitalia gangrene. Results: The mean age of our patients was 53.8 years. The large ulcero-necrosis of scrotum was the main reason for reference. Our patients consulted on average 8.23 days after the onset of symptomatology. A risk factor was found in 44.2% of cases and a cause was identified in 65.3% of patients. A urogenital cause was present in 32.7%. Probabilistic antibiotic therapy and medical reanimation were systematic at admission. Debridement was performed on average 18 hours after admission and 10 patients had more than one debridement. We noted a mortality rate of 5.5%. Conclusion: Fournier’s gangrene is a serious infectious disease whose diagnosis is often delayed in our context. Early surgical debridement remains the essential therapeutic gesture to reduce mortality.展开更多
Gunshot wounds to external genitalia are rare either in war field and civilian setting accounting for 2% - 4% of all injuries with often a lesion to the urinary tract. We report a case of external genital injury in a ...Gunshot wounds to external genitalia are rare either in war field and civilian setting accounting for 2% - 4% of all injuries with often a lesion to the urinary tract. We report a case of external genital injury in a 27 years old man, accidentally injured by his own arm when he pressed the trigger of his gun placed in his pants. He had no past medical or surgical history, he presented to the emergency room (ER) with hemorrhagic scrotal and penile injuries with adjacent urethral tissue damage. He underwent a scrotal flap urethroplasty, and realignment of the corpus cavernosa and the tunica albugina. The patient lost his Foley catheter at post-operative day 3 and subsequently developed a urethral stenosis. Gunshot wounds to external genitalia are rare. A good reconstruction is necessary to avoid an impact on sexual and voiding function.展开更多
Trauma to the male genitalia is not very common and mainly affects a young population. There is probably a particular instinct in men to defend their external genitalia;indeed, in the flaccid state, the penis is littl...Trauma to the male genitalia is not very common and mainly affects a young population. There is probably a particular instinct in men to defend their external genitalia;indeed, in the flaccid state, the penis is little exposed, and fairly well protected and its mobility allows it to move with the impact of trauma and thus reduce the vulnating force. Open trauma is rare, as is testicular dislocation, the most common being closed trauma. Testicular trauma is an uncommon accident that affects young people. Trauma is most often caused by road and traffic accidents. Animal bites are rare, as is genital self-mutilation related to a psychiatric disorder. Surgical exploration is the rule except in cases of moderate testicular trauma. Our objective was to report our experience in an emergency context where treatment is poorly codified and to review the literature. We recorded four patients with external genitalia trauma managed in the urology department from April 2013 to March 2022. Our patients were children with open genitalia trauma following a traffic accident, scrotal injuries were encountered in three patients, and additional penile injuries in one patient. All patients were treated surgically. The follow-up was straightforward.展开更多
Introduction: Ballistic traumas of the external genitalia are rare especially in civil practice. Emergency surgical exploration is the rule. Case Report: Mr. F.Y., 29 years old, a security agent, admitted to the Urolo...Introduction: Ballistic traumas of the external genitalia are rare especially in civil practice. Emergency surgical exploration is the rule. Case Report: Mr. F.Y., 29 years old, a security agent, admitted to the Urological Emergency Unit of Yalgado Ouédraogo University Hospital of Ouagadougou for trauma of the penile and left purse by firearm. The clinical examination revealed a good hemodynamic status, bladder distension. A suprapubic catheterization was performed. We noted a transfixing and bleeding wound on the penile, and on the left purse which was edematous. The patient was admitted to the operation room 07 hours after trauma. Exploration found a total destruction of the left testicle classified grade 5 of the classification of the American Association of the Surgery of Trauma (AAST). We performed a left orchiectomy. There was a partial rupture of the ventral face of the penile urethra. We performed an end-to-end anastomosis on a Foley catheter CH 18. The Foley catheter was removed after two weeks. Urination was spontaneous without dysuria. Erections were painless and without kinking of penile. Conclusion: Open traumas of the external genitalia are rare and their treatment is an extreme surgical emergency.展开更多
Trauma to the external genitalia by tearing is rare. We report the case of a 30-year-old patient, admitted to the emergency room for trauma of the external genitalia by traction following a blow and intentional injury...Trauma to the external genitalia by tearing is rare. We report the case of a 30-year-old patient, admitted to the emergency room for trauma of the external genitalia by traction following a blow and intentional injury. The authors highlight the lesions that can occur during this type of trauma and insist on the systematic search for urethral and cavernous lesions. Conclusion: Trauma to the external genitalia by intentional assault and battery is rare in our context. They occur most often in a young person and are frequently associated with damage to the corpora cavernosa and urethra.展开更多
This study was conducted retrospectively on a cohort of 68 patients with steroid 5α-reductase 2(SRD5A2)deficiency and 46,XY disorders of sex development(DSD).Whole-exon sequencing revealed 28 variants of SRD5A2,and f...This study was conducted retrospectively on a cohort of 68 patients with steroid 5α-reductase 2(SRD5A2)deficiency and 46,XY disorders of sex development(DSD).Whole-exon sequencing revealed 28 variants of SRD5A2,and further analysis identified seven novel mutants.The preponderance of variants was observed in exon 1 and exon 4,specifically within the nicotinamide adenine dinucleotide phosphate(NADPH)-binding region.Among the entire cohort,53 patients underwent initial surgery at Sichuan Provincial People’s Hospital(Chengdu,China).The external genitalia scores(EGS)of these participants varied from 2.0 to 11.0,with a mean of 6.8(standard deviation[s.d.]:2.5).Thirty patients consented to hormone testing.Their average testosterone-todihydrotestosterone(T/DHT)ratio was 49.3(s.d.:23.4).Genetic testing identified four patients with EGS scores between 6 and 9 as having this syndrome;and their T/DHT ratios were below the diagnostic threshold.Furthermore,assessments conducted using the crystal structure of human SRD5A2 have provided insights into the potential pathogenic mechanisms of these novel variants.These mechanisms include interference with NADPH binding(c.356G>C,c.365A>G,c.492C>G,and c.662T>G)and destabilization of the protein structure(c.727C>T).The c.446-1G>T and c.380delG variants were verified to result in large alterations in the transcripts.Seven novel variations were identified,and the variant database for the SRD5A2 gene was expanded.These findings contribute to the progress of diagnostic and therapeutic approaches for individuals with SRD5A2 deficiency.展开更多
Background:Male genital form and function may be rendered abnormal by a number of disease processes,with profound associated psychological and functional consequences.The aim of the study is to review our reconstructi...Background:Male genital form and function may be rendered abnormal by a number of disease processes,with profound associated psychological and functional consequences.The aim of the study is to review our reconstructive experience with cases of genital loss or distortion due to nonmalignant diseases processes and atypical neoplasia.Materials and methods:A retrospective review of a prospectively maintained database was performed to identify reconstructive cases performed from 2018 to 2020 under the care of a single surgeon.Male patients 18 years or older with a disease diagnosis other than squamous cell carcinoma affecting genital form were included.Disease processes,patient factors,surgical techniques,and both functional and cosmetic outcomes were reviewed.Results:Fourteen cases were identified.The patients had a mean age of 52.2 years(range,21-72 years).Acquired buried penis was present in 8 patients.Etiology of genital abnormality included balanitis xerotica obliterans(n=6),excess skin loss at circumcision(n=2),self-injection of petroleum jelly to penile shaft(n=1),Fournier gangrene(n=1),hidradenitis suppurativa(n=1),extramammary Paget disease(n=1),idiopathic lymphoedema(n=1),and penoscrotal webbing(n=1).Reconstructive techniques performed included penile debridement/shaft skin release,scrotectomy,suprapubic apronectomy,and division of penoscrotal webbing,in combination with split-thickness skin grafting where required.A penile implant was inserted in one patient.Reconstructive planning,techniques,and outcomes are described.Conclusions:A variety of reconstructive techniques in andrology can be used to improve the aesthetic and functional outcomes of multiple disease processes affecting the male external genitalia.展开更多
文摘Introduction: Gangrene of the external genitalia organs (EGO) is a medico-surgical emergency that is still very common in Third World countries. The main etiologies are urogenital, dermocutaneous and proctological. Mortality remains very high despite therapeutic advances. Our aim was to report on the epidemiological, diagnostic and therapeutic aspects of gangrene of the external genitalia, and to identify prognostic factors. Patients and Method: This was a 5-year retrospective descriptive study, from February 2016 to February 2021, of cases of gangrene of the external genitalia admitted to and treated in the Urology Department of Abeche University Hospital. Results: We collected 49 cases of gangrene of the external genitalia. The mean age of patients was 42 ± 16.81, with extremes of 20 and 81 years. The age group most concerned was between 20 and 29. The most frequent reasons for consultation were suppuration of the external genitalia and scrotal swelling. The average consultation time was 19.05 ± 16.02 days. The most common comorbidity was diabetes (35.9%). The most frequent pathological antecedents were urinary tract infections and endourethral maneuvers, reported in 40.5% and 38.7% respectively. Urogenital aetiology was predominant in 54.7%, and idiopathic in 35.9%. Lesions involved the scrotum in 60.6%, the scrotum and penis in 16.5%, and the penis alone in 5.7% of cases. Lesions extended to the perineum in 13.6% of cases, and to the abdomen in 3.6%. Vascular filling via the central venous line was performed in 58.6% of cases, and via the peripheral venous line in 41.4%. 3rd-generation cephalosporins and associated imidazoles were the most commonly used antibiotics. Necrosectomy was performed in 37 patients (73.4%), debridement combined with bypass cystostomy in 26.6% of cases. Colostomy was performed in 4% of cases. 90.8% of patients were cured and 9.2% died. The average hospital stay was 30 ± 75 days. Conclusion: The gangrene of the external genitalia is a medical and surgical emergency which has become rare in Europe, but which is still very common in the context of our practice in Chad. The severity of the disease is linked to delayed consultation and co-morbidity factors. Mortality remains very high despite therapeutic advances.
文摘Objective: To study the etiology and differential diagnos is of ambiguous genitalia.Methods: One hundred and five cases of ambiguous genitalia with disorders of sexual differentiation were analyzed based on clinical characterist ics and basic research. Results: Ambiguous genitalia are closely related to the functio n of androgen. It could be classified into 3 groups: androgen excess, androgen d eficiency and failure of gonadal differentiation. Differential diagnosis depends on clinical manifestations, chromosome examination, serum hormone determination s, final gonadal pathology, receptor study etc.Conclusion: Ambiguous genitalia are related to abnormal androgen ic effect and early correct etiological diagnosis is the key to its management.
文摘The male genitalia of 13 species from four genera of Astathini were described and analyzed. The result showed that five genital characters, such as shape of the apex of 8th abdominal tergaum and sternum, ratio of the length of lateral lobes to tegmen, can be used to identify genera of Astathini; six characters, such as ratio of the length of lateral lobes to tegmen, ratio of the length of roof to lateral lobes, shape of the apex of ventral plate of median lobe, can be used to identify species in Bacchisa.
基金supported by the Science and Technology Basic Research Fund(2015FY21 0300)
文摘A new record species of genus Aegosoma Serville, 1832 is reported from China. The male genitalia of seven species from the genus Aegosoma are described and compared. The result shows that 16 genital characters, such as narrow position of the apex of parameres, ratio of length and width of parameres, curvature of tegmen, ratio of spiculum gastrale and spiculum relictum, ratio of penis and tegmen, ratio of median structs and median lobe, curvature of penis, ratio of tegmen and parameres etc., can be used to identify species of Aegosoma. A key to Chinese species of Aegosoma is presented.
文摘Aim: Report the epidemiological, clinicopathological characteristics and ensuring management of recent traumas of the external genitalia in Urology. Methods: This was a descriptive retrospective study of 47 cases of patients suffering from recent traumas of the external genitalia over a period of 5 years. The variables studied were sociodemographic, clinical, paraclinical, therapeutic and evolutionary. Results: A total of 47 patients, including 46 men, were managed. The mean age was 26.8 years, ranging from 6 to 56 years. The circumstances of occurrence were: the missteps of coitus (n = 16), traffic accidents (n = 9) and criminal injuries (n = 8). The fracture of the penis (n = 16) was the most common lesion followed by the scrotal wound (n = 11). The management was medical and surgical and varied by the type of lesion. The outcome was favorable in 91.5% of cases. Conclusion: The incidence of traumas of the external genitalia was 9.4 in urology department in N'Djamena. Penis fracture was the frequent lesion. The management is multidisciplinary, medical and surgical.
文摘We report a case of ambiguous genitalia in a 15-year-old patient to demonstrate input of medical imaging in the diagnosis and care of this rare congenital deformation. Disorders of sexual differentiation (DSD) have been defined as congenital conditions in which development of chromosome, gonad, or anatomic sex is atypical and that raise an issue in the sex assignment. In lower socioeconomic countries where antenatal diagnosis is almost non-existent, due to lack of technical facilities, their medical and surgical management is hard. The case which we report was investigated by ultrasonography and genitography, which remains primary indications in our context.
文摘Objective: To describe the clinical aspects and the management of external genitalia gangrene in the Urology department of the Bobo Dioulasso CHUSS. Patients and methods: This was a retrospective and descriptive study over a period of 6 years from January 2011 to December 2016, which covered 54 patients hospitalized in the urology department of the University Hospital Souro Sanou for external genitalia gangrene. Results: The mean age of our patients was 53.8 years. The large ulcero-necrosis of scrotum was the main reason for reference. Our patients consulted on average 8.23 days after the onset of symptomatology. A risk factor was found in 44.2% of cases and a cause was identified in 65.3% of patients. A urogenital cause was present in 32.7%. Probabilistic antibiotic therapy and medical reanimation were systematic at admission. Debridement was performed on average 18 hours after admission and 10 patients had more than one debridement. We noted a mortality rate of 5.5%. Conclusion: Fournier’s gangrene is a serious infectious disease whose diagnosis is often delayed in our context. Early surgical debridement remains the essential therapeutic gesture to reduce mortality.
文摘Gunshot wounds to external genitalia are rare either in war field and civilian setting accounting for 2% - 4% of all injuries with often a lesion to the urinary tract. We report a case of external genital injury in a 27 years old man, accidentally injured by his own arm when he pressed the trigger of his gun placed in his pants. He had no past medical or surgical history, he presented to the emergency room (ER) with hemorrhagic scrotal and penile injuries with adjacent urethral tissue damage. He underwent a scrotal flap urethroplasty, and realignment of the corpus cavernosa and the tunica albugina. The patient lost his Foley catheter at post-operative day 3 and subsequently developed a urethral stenosis. Gunshot wounds to external genitalia are rare. A good reconstruction is necessary to avoid an impact on sexual and voiding function.
文摘Trauma to the male genitalia is not very common and mainly affects a young population. There is probably a particular instinct in men to defend their external genitalia;indeed, in the flaccid state, the penis is little exposed, and fairly well protected and its mobility allows it to move with the impact of trauma and thus reduce the vulnating force. Open trauma is rare, as is testicular dislocation, the most common being closed trauma. Testicular trauma is an uncommon accident that affects young people. Trauma is most often caused by road and traffic accidents. Animal bites are rare, as is genital self-mutilation related to a psychiatric disorder. Surgical exploration is the rule except in cases of moderate testicular trauma. Our objective was to report our experience in an emergency context where treatment is poorly codified and to review the literature. We recorded four patients with external genitalia trauma managed in the urology department from April 2013 to March 2022. Our patients were children with open genitalia trauma following a traffic accident, scrotal injuries were encountered in three patients, and additional penile injuries in one patient. All patients were treated surgically. The follow-up was straightforward.
文摘Introduction: Ballistic traumas of the external genitalia are rare especially in civil practice. Emergency surgical exploration is the rule. Case Report: Mr. F.Y., 29 years old, a security agent, admitted to the Urological Emergency Unit of Yalgado Ouédraogo University Hospital of Ouagadougou for trauma of the penile and left purse by firearm. The clinical examination revealed a good hemodynamic status, bladder distension. A suprapubic catheterization was performed. We noted a transfixing and bleeding wound on the penile, and on the left purse which was edematous. The patient was admitted to the operation room 07 hours after trauma. Exploration found a total destruction of the left testicle classified grade 5 of the classification of the American Association of the Surgery of Trauma (AAST). We performed a left orchiectomy. There was a partial rupture of the ventral face of the penile urethra. We performed an end-to-end anastomosis on a Foley catheter CH 18. The Foley catheter was removed after two weeks. Urination was spontaneous without dysuria. Erections were painless and without kinking of penile. Conclusion: Open traumas of the external genitalia are rare and their treatment is an extreme surgical emergency.
文摘Trauma to the external genitalia by tearing is rare. We report the case of a 30-year-old patient, admitted to the emergency room for trauma of the external genitalia by traction following a blow and intentional injury. The authors highlight the lesions that can occur during this type of trauma and insist on the systematic search for urethral and cavernous lesions. Conclusion: Trauma to the external genitalia by intentional assault and battery is rare in our context. They occur most often in a young person and are frequently associated with damage to the corpora cavernosa and urethra.
基金supported by the Sichuan Science and Technology Program(No.2022JDZH0029 to JYY)the Special Fund for Clinical Research and Translational Medicine from Chinese Academy of Medical Sciences(No.2022-I2M-C&T-B-117 to JYY)the Sichuan Key Research and Development Project from the Department of Science and Technology of Sichuan Province(No.2022YFS0237 to YMT).
文摘This study was conducted retrospectively on a cohort of 68 patients with steroid 5α-reductase 2(SRD5A2)deficiency and 46,XY disorders of sex development(DSD).Whole-exon sequencing revealed 28 variants of SRD5A2,and further analysis identified seven novel mutants.The preponderance of variants was observed in exon 1 and exon 4,specifically within the nicotinamide adenine dinucleotide phosphate(NADPH)-binding region.Among the entire cohort,53 patients underwent initial surgery at Sichuan Provincial People’s Hospital(Chengdu,China).The external genitalia scores(EGS)of these participants varied from 2.0 to 11.0,with a mean of 6.8(standard deviation[s.d.]:2.5).Thirty patients consented to hormone testing.Their average testosterone-todihydrotestosterone(T/DHT)ratio was 49.3(s.d.:23.4).Genetic testing identified four patients with EGS scores between 6 and 9 as having this syndrome;and their T/DHT ratios were below the diagnostic threshold.Furthermore,assessments conducted using the crystal structure of human SRD5A2 have provided insights into the potential pathogenic mechanisms of these novel variants.These mechanisms include interference with NADPH binding(c.356G>C,c.365A>G,c.492C>G,and c.662T>G)and destabilization of the protein structure(c.727C>T).The c.446-1G>T and c.380delG variants were verified to result in large alterations in the transcripts.Seven novel variations were identified,and the variant database for the SRD5A2 gene was expanded.These findings contribute to the progress of diagnostic and therapeutic approaches for individuals with SRD5A2 deficiency.
文摘Background:Male genital form and function may be rendered abnormal by a number of disease processes,with profound associated psychological and functional consequences.The aim of the study is to review our reconstructive experience with cases of genital loss or distortion due to nonmalignant diseases processes and atypical neoplasia.Materials and methods:A retrospective review of a prospectively maintained database was performed to identify reconstructive cases performed from 2018 to 2020 under the care of a single surgeon.Male patients 18 years or older with a disease diagnosis other than squamous cell carcinoma affecting genital form were included.Disease processes,patient factors,surgical techniques,and both functional and cosmetic outcomes were reviewed.Results:Fourteen cases were identified.The patients had a mean age of 52.2 years(range,21-72 years).Acquired buried penis was present in 8 patients.Etiology of genital abnormality included balanitis xerotica obliterans(n=6),excess skin loss at circumcision(n=2),self-injection of petroleum jelly to penile shaft(n=1),Fournier gangrene(n=1),hidradenitis suppurativa(n=1),extramammary Paget disease(n=1),idiopathic lymphoedema(n=1),and penoscrotal webbing(n=1).Reconstructive techniques performed included penile debridement/shaft skin release,scrotectomy,suprapubic apronectomy,and division of penoscrotal webbing,in combination with split-thickness skin grafting where required.A penile implant was inserted in one patient.Reconstructive planning,techniques,and outcomes are described.Conclusions:A variety of reconstructive techniques in andrology can be used to improve the aesthetic and functional outcomes of multiple disease processes affecting the male external genitalia.
