PDF(Pubmed)
Abstract：
BACKGROUND: Aphallia is a rare congenital anomaly often associated with other urogenital anomalies. The management of aphallia cases for both the immediate and long-term treatment of patients with aphallia pose a major dilemma. Patients are at risk for psychosocial and psychosexual challenges throughout life.
METHODS: A systematic review was conducted on aphallia cases. We searched online databases until March 2023 for relevant articles and performed according to the PRISMA-P guidelines.
RESULTS: Of the 43 articles screened, there were 33 articles included. A total of 41 patients were analyzed qualitatively. Asia is the region with the most aphallia cases with 53% (n:22), while the United States is the country with the most most reported aphallia cases 31% (n:13). Most cases were identified as male sex (n: 40), and most cases were neonate with 68% (n:28) cases. Physical examination generally found 85% (N = 35) with normal scrotal development and palpable testes. The most affected system with anomalies is the genitourinary system with fistulas in 80% (n:29) cases. Initial management in 39% (n:16) of patients involved vesicostomy. Further management of 31% (n:13) included phalloplasty or penile reconstruction, and 12% (n:5) chose female sex. 17% (n:7) of patients refused medical treatment or were lost to follow-up, and 12% (n = 5) patients deceased.
CONCLUSIONS: Aphallia is a rare condition and is often associated with other inherited genitourinary disorders. In most cases, physical examinations are normal except for the absence of a phallus, and laboratory testing shows normal results. The initial management typically involves the vesicostomy procedure. Subsequent management focuses on gender determination. Currently, male sex is preferred over female. Due to the significant variability, the rarity of cases, and the lack of long-term effect reporting in many studies on aphallia, further research is needed to minimize bias.
METHODS: A systematic review was conducted on aphallia cases. We searched online databases until March 2023 for relevant articles and performed according to the PRISMA-P guidelines.
RESULTS: Of the 43 articles screened, there were 33 articles included. A total of 41 patients were analyzed qualitatively. Asia is the region with the most aphallia cases with 53% (n:22), while the United States is the country with the most most reported aphallia cases 31% (n:13). Most cases were identified as male sex (n: 40), and most cases were neonate with 68% (n:28) cases. Physical examination generally found 85% (N = 35) with normal scrotal development and palpable testes. The most affected system with anomalies is the genitourinary system with fistulas in 80% (n:29) cases. Initial management in 39% (n:16) of patients involved vesicostomy. Further management of 31% (n:13) included phalloplasty or penile reconstruction, and 12% (n:5) chose female sex. 17% (n:7) of patients refused medical treatment or were lost to follow-up, and 12% (n = 5) patients deceased.
CONCLUSIONS: Aphallia is a rare condition and is often associated with other inherited genitourinary disorders. In most cases, physical examinations are normal except for the absence of a phallus, and laboratory testing shows normal results. The initial management typically involves the vesicostomy procedure. Subsequent management focuses on gender determination. Currently, male sex is preferred over female. Due to the significant variability, the rarity of cases, and the lack of long-term effect reporting in many studies on aphallia, further research is needed to minimize bias.
摘要：
背景：Aphalia是一种罕见的先天性异常，通常与其他泌尿生殖系统异常有关。用于立即和长期治疗的无足病患者的无足病病例的管理是一个主要的难题。患者一生都面临着心理社会和性心理挑战的风险。
方法：对失足病例进行系统评价。我们在2023年3月之前的在线数据库中搜索相关文章，并根据PRISMA-P指南进行操作。
结果：在筛选的43篇文章中，包括33篇文章。共对41例患者进行定性分析。亚洲是最多病例的地区，占53％（n：22），而美国是报告数量最多的国家，占31％（n:13）。大多数病例被确定为男性（n：40），大多数病例为新生儿，占68％（n：28）例。体格检查通常发现85％（N=35）的阴囊发育正常，睾丸可触及。在80％（n：29）的病例中，受影响最大的异常系统是泌尿生殖系统。39％（n：16）的患者的初始管理涉及膀胱造口术。31%(n:13)的进一步治疗包括阴茎成形术或阴茎重建，12%(n:5)选择女性。17％（n：7）的患者拒绝治疗或失去随访，12％（n=5）的患者死亡。
结论：Aphalia是一种罕见疾病，通常与其他遗传性泌尿生殖系统疾病有关。在大多数情况下,体检是正常的，除了没有阳具，实验室检测结果正常.初始管理通常涉及膀胱造口术。随后的管理侧重于性别确定。目前,男性优先于女性。由于显著的可变性,罕见的案件，并且在许多关于失足的研究中缺乏长期效应报告，需要进一步的研究来减少偏差。
方法：对失足病例进行系统评价。我们在2023年3月之前的在线数据库中搜索相关文章，并根据PRISMA-P指南进行操作。
结果：在筛选的43篇文章中，包括33篇文章。共对41例患者进行定性分析。亚洲是最多病例的地区，占53％（n：22），而美国是报告数量最多的国家，占31％（n:13）。大多数病例被确定为男性（n：40），大多数病例为新生儿，占68％（n：28）例。体格检查通常发现85％（N=35）的阴囊发育正常，睾丸可触及。在80％（n：29）的病例中，受影响最大的异常系统是泌尿生殖系统。39％（n：16）的患者的初始管理涉及膀胱造口术。31%(n:13)的进一步治疗包括阴茎成形术或阴茎重建，12%(n:5)选择女性。17％（n：7）的患者拒绝治疗或失去随访，12％（n=5）的患者死亡。
结论：Aphalia是一种罕见疾病，通常与其他遗传性泌尿生殖系统疾病有关。在大多数情况下,体检是正常的，除了没有阳具，实验室检测结果正常.初始管理通常涉及膀胱造口术。随后的管理侧重于性别确定。目前,男性优先于女性。由于显著的可变性,罕见的案件，并且在许多关于失足的研究中缺乏长期效应报告，需要进一步的研究来减少偏差。
