Epispadias is a rare congenital birth defect and is considered the least severe anomaly in the spectrum of the bladder exstrophy-epispadias complex (BEEC). As a solitary malformation, its incidence is 1 in 118,000 births in males and 1 in 150,000 to 1 in 300,000 in females (Grady RW and Mitchell ME, Urol Clin North Am 29:349–60, 2002; Dees JE, J Urol 62:513, 1949). Epispadias is characterized by failure of the urethral plate to tubularize on the dorsum with a defect ranging from a glandular to a penopubic location. Male patients also have dorsal curvature of varying severity. In females, the urethra is not formed anteriorly with deficiency of the bladder neck. The external genitalia are abnormal with a bifid clitoris and separation of the mons pubis. It is more commonly diagnosed in males than females, with the male-to-female ratio of approximately 3:1. Understanding the genetic and environmental factors that contribute to the development of epispadias remains an area of ongoing research. However, the precise etiology is not fully understood, and it is considered to result from a combination of genetic mutations and environmental influences during embryonic development. The management of epispadias involves a combination of surgical repair and ongoing supportive care, with the goal of restoring normal urinary and sexual function while achieving an aesthetically acceptable result. Postoperative care is essential to monitor outcomes, including continence, sexual function. Long-term follow-up is critical to assess the functional outcomes, with attention to both urinary and psychological well-being. Multidisciplinary care is often necessary to address the complex needs of these patients throughout their childhood and adolescence. This chapter aims to provide a detailed exploration of the incidence, diagnostic methods, and management strategies for epispadias, offering insights into the advances in surgical techniques and postoperative care.

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Male Epispadias

  • Paul A. Merguerian

摘要

Epispadias is a rare congenital birth defect and is considered the least severe anomaly in the spectrum of the bladder exstrophy-epispadias complex (BEEC). As a solitary malformation, its incidence is 1 in 118,000 births in males and 1 in 150,000 to 1 in 300,000 in females (Grady RW and Mitchell ME, Urol Clin North Am 29:349–60, 2002; Dees JE, J Urol 62:513, 1949). Epispadias is characterized by failure of the urethral plate to tubularize on the dorsum with a defect ranging from a glandular to a penopubic location. Male patients also have dorsal curvature of varying severity. In females, the urethra is not formed anteriorly with deficiency of the bladder neck. The external genitalia are abnormal with a bifid clitoris and separation of the mons pubis. It is more commonly diagnosed in males than females, with the male-to-female ratio of approximately 3:1. Understanding the genetic and environmental factors that contribute to the development of epispadias remains an area of ongoing research. However, the precise etiology is not fully understood, and it is considered to result from a combination of genetic mutations and environmental influences during embryonic development. The management of epispadias involves a combination of surgical repair and ongoing supportive care, with the goal of restoring normal urinary and sexual function while achieving an aesthetically acceptable result. Postoperative care is essential to monitor outcomes, including continence, sexual function. Long-term follow-up is critical to assess the functional outcomes, with attention to both urinary and psychological well-being. Multidisciplinary care is often necessary to address the complex needs of these patients throughout their childhood and adolescence. This chapter aims to provide a detailed exploration of the incidence, diagnostic methods, and management strategies for epispadias, offering insights into the advances in surgical techniques and postoperative care.