Abstract
During the development of the phallic part of a urogenital sinus, the urethral plate tubularizes by midline meeting of its elongated folds. Simultaneously, the outer ectodermal genital folds fuse at the midline, which is demarcated by the perineal and penile raphe.
Hypospadias as a common urogenital anomaly will not be discussed herein, but two variants, chordee without hypospadias (CWH) and megameatus intact prepuce hypospadias variants, will be discussed with some details.
Isolated epispadias without exstrophy is a rare anomaly; the incidence being 1 in 120,000 in males, the male-to-female ratio is 2.3:11. The first recorded case is attributed to the Byzantine Emperor Heraclius for his unknown disease. Isolated epispadias remained unknown and untreated until it was described by Morgagni in 1761; it is classified into glanular, penile, pubic, or penopubic epispadias.
Congenital megalourethra is a rare form of functional obstructive uropathy caused by dysgenesis of the penile corpora cavernosa and spongiosa, which results in extensive dilatation of the penile urethra; it has been postulated that it may be caused by abnormal development or hypoplasia of the penile erectile tissue secondary to distal urethral obstruction.
Urethral duplication is a rare congenital anomaly affecting mainly boys, with a variable clinical presentation because of the different anatomical patterns. This pathological condition may be easily underdiagnosed especially in patients with other associated anomalies such as hypospadias or bladder exstrophy.
Congenital urethroanal fistulas are very rare in the absence of associated anorectal malformation; in the male child, it represents less than 1 % cases of all anorectal malformations, but urethral fistula associated with anorectal malformations is a common finding among children who had anorectal malformations.
Urethral agenesis with complete absence of the urinary meatus is a very rare anomaly, which comes in two forms: either with normal phallus or in combination with penile agenesis. It is a very rare reported anomaly as most cases die intrauterine; combined bladder and urethral agenesis is also an extremely rare anomaly; only 22 live births have been reported of the 60 known cases.
Congenital urethral narrowing is known as Cobb’s collar and Moormann’s ring. It can appear either as a ridge of tissue (Cobb’s collar I) or a definite stricture at the junction between prostatic and membranous urethra (Cobb’s collar п) or even as a very tight pinhole opening (Cobb’s collar Ш).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Embryology and Anatomy
Barbaric ZL. Chapter 22: Male urethra and seminal tract. In: Principles of genitourinary radiology. 2nd ed. New York: Thieme Medical; 1994. p. 426–42.
Variant of Hypospadias
Barcat J. Current concepts in of treatment. In: Horton CE, editor. Plastic and reconstructive surgery of the genital area. Boston: Little Brown; 1973. p. 249–62.
Duckett JW. Hypospadias. In: Walsh PC, Retik AB, Vaughan ED, et al., editors. Campbell’s urology. 7th ed. Philadelphia: WB Saunders Co; 1998. p. 2093–119.
Megameatus Intact Prepuce Hypospadias Variant
Gerald HJ, Schlossberg SM. Surgery of penis and urethra. In: Walsh PC, Vaughan ED, Retik AB, Wein AJ, editors. Campbell’s urology. 8th ed. Philadelphia: WB Saunders; 2002. p. 3886–952.
Donnahoo KK, Cain MP, Pope JC, Casale AJ, Keating MA, Adams MC, et al. Etiology, management and surgical complications of congenital chordee without hypospadias. J Urol. 1998;160(3):1120–2.
Azmy AF. Chordee (penile curvature). In: Hadidi AH, Azmy OF, editors. Hypospadias surgery an illustrated guide. 1st ed. Berlin/Heidelberg: Springer; 2004. p. 115–8.
Devine CJ, Horton CE. Chordee without hypospadias. J Urol. 1973;110:264–71.
Kramer SA, Aydin G, Kelalis PP. Chordee without hypospadias in children. J Urol. 1982;128:559–61.
Tang YM, Chen SJ, Huang LG, Wang MH. Chordee without hypospadias: report of 79 Chinese prepubertal patients. J Androl. 2007;28(4):630–3.
Epispadias
Ebert AK, Reutter H, Ludwig M, Rosch WH. The Exstrophy-epispadias complex. Orphanet J Rare Dis. 2009;4:23.
Lascaratos J, Poulakou-Rembelakou E, Rembelakos A, Marketos S. The first case of epispadias: an unknown disease of the Byzantine Emperor Heraclius (610–641 AD). Br J Urol. 1995;76:380–3.
Gearhart JP, Mathews RI. Exstrophy-epispadias complex. In: Wein AJ, editor. Ampbell-Walsh urology. 10th ed. Philadelphia: Saunders/Elsevier; 2007. p. 3357.
Ransley PG, Duffy PG. Bladder exstrophy closure and epispadias repair. In: Spitz L, Coran AG, editors. Rob & Smith operative surgery (pediatric surgery). London: Chapman & Hall; 1995. p. 745–59.
Gearhart J, Mathews R. Exstrophy-Epispadias complex. In: Wein A, editor. Campbell-Walsh urology. Philadelphia: Saunders/Elsevier; 2007. p. 3547–8.
Davis D. Epispadias in females and its surgical treatment. Surg Gynecol Obstet. 1928;47:680–96.
Tantibhedhyangkul J, Copland SD, Haqq AM, Thomas M, Price TM. A case of unrecognized female epispadias. Fertil Steril. 2008;90(5):2017.e1–3.
Megalourethra
Obrinsky W. Agenesis of abdominal muscles with associated malformation of the genitourinary tract; a clinical syndrome. Am J Dis Child. 1949;77:362–73.
Benacerraf BR, Saltzman DH, Mandell J. Sonographic diagnosis of abnormal fetal genitalia. J Ultrasound Med. 1989;8:613–7.
Nesbit RM, Baum WC. Obstructive uropathy in childhood; diagnosis and surgical management. J Mich State Med Soc. 1955;54(Part 1):1067–71.
Volmar KE, Nguyen TC, Holcroft CJ, Blakemore KJ, Hutchins GM. Phimosis as a cause of the prune belly syndrome: comparison to a more common pattern of proximal penile urethra obstruction. Virchows Arch. 2003;442(2):169–72.
Dorairajan T. Defects of spongy tissue and congenital diverticula of the penile urethra. Aust N Z J Surg. 1962;32:209–14.
Amsalem H, Fitzgerald B, Keating S, Ryan G, et al. Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases. Ultrasound Obstet Gynecol. 2011;37:678–83.
Sepulveda W, Berry SM, Romero R, King ME, Johnson MP, Cotton DB. Prenatal diagnosis of congenital megalourethra. J Ultrasound Med. 1993;12:761–6.
Urethral Duplication
Scuderi MC, Sanges G, et al. Urethral duplication in males: our experience in ten cases. Pediatr Surg Int. 2007;23:789–94.
Onofre LS, Gomes AL, Leão JQ, Leão FG, Cruz TM, Carnevale J, Arena S, Arena C. Urethral duplication – a wide spectrum of anomalies. J Pediatr Urol. 2013;9(6):1064–71.
Merrot T, Weber D, Steyeart H, Alessandrini P. Duplication sagitteles de l’ure’thre chez l’enfant. A propos de 7 observations. Prog Urol. 2002;12:77–83.
Effmann EL, Lebowitz RL, Colodyn AH. Duplication of the urethra. Radiology. 1976;119:179–85.
Wagner JR, Carr MC, Bauer SB, et al. Congenital posterior urethral perineal fistulae: a unique form of urethral duplication. Urology. 1996;48:277.
Salle LL, Sibai H, Rosenstein D, Brzezinski AE, Corcos J. Urethral duplication in the male: review of 16 cases. J Urol. 2000;163:1936–40.
Congenital Urethral Fistula
Spinelli C, Pucci V, Menchini C, Buti I, Fregoli L, Spisni R, Mogorovich A. A Congenital Anterior Urethrocutaneous Fistula in a Boy Whose Mother Was Exposed to Ionizing Radiations: Case Report and Literature Review. Case Reports in Urology. 2013;2013:525386. doi:10.1155/2013/525386.
Olbourne NA. Congenital urethral fistula: case reports. Plast Reconstr Surg. 1976;57(2):237–9.
Campbell M. Clinical pediatric urology. Philadelphia: WB Saunders; 1951.
Caldamone AA, Chen SC, Elder JS, Ritchey ML, Diamond DA, Koyle MA. Congenital anterior urethrocutaneous fistula. J Urol. 1999;162(4):1430–2.
Al-Bassam A, Sheikh MA, Al-Smayer S, Al-Boukai A, Al-Damegh S. Congenital H-type anourethral fistula with severe urethral hypoplasia: case report and review of the literature. J Pediatr Surg. 1998;33:1550–3.
Urethral Diverticulum
Duncan AW, Thorogood S, Grier DG. Is the end in sight? The potentially missed lacuna magna. Pediatr Radiol. 1998;28:889–91.
Gupta DK, Srinivas M. Congenital anterior urethral diverticulum in children. Pediatr Surg Int. 2000;16:565–8.
Mutlu N, Culha V, Mutlu B, Acar O, Turkan S, Gokalp A. Cobb’s collar and syringocele with stone. Int J Clin Pract. 1998;52:352–3.
Urethral Agenesis
Rezaie MA, Ehsan Mansourian E, Delui HR, Amirmajdi NM. Bladder and urethral agenesis: a report of two cases. Urology. 2010;76(1):60–1.
Patil SJ, Phadke SR. Urorectal septum malformation sequence. Indian J Pediatr. 2006;73:287–93.
O’Connor TA, La Cour ML, Friedlander ER, Thomas R. Penile agenesis associated with urethral and bilateral renal agenesis. Urology. 1993;41:564–5.
Kuga T, Esato K, Sase M, Nakata M, Kaneko J, Inoue T. Prune belly syndrome with penile and urethral agenesis: report of a case original research article. J Pediatr Surg. 1998;33(12):1825–8.
Urethral Cyst
Thompson IM, Lantin PM. Parameatal cysts of the glans penis. J Urol. 1956;76:753–5.
Lal S, Ankur A. Parameatal cyst: a presentation of rare case and review of literature. J Clin Diagn Res. 2013;7(8):1757–8.
Desatuel MG, Stock J, Hanna MK. Mullerian duct remnants: surgical management and fertility issues. J Urol. 1999;162:1008–14.
Priyadarshi V, Singh JP, Mishra S, et al. Prostatic utricle cyst: a clinical dilemma. APSP J Case Rep. 2013;4(2):16.
Skene AJC. The anatomy and pathology of two important glands of the female urethra. Am J Obstet. 1880;13:265–70.
Huffman JW. The detailed anatomy of the para-urethral ducts in the adult human female. Am J Obstet Gynecol. 1948;55:86–101.
Moralioğlu S, Bosnal O, Celayir AC, Şahin C. Paraurethral Skene’s duct cyst in a newborn. Urol Ann. 2013;5(3):204–5.
Urethral Polyp
Demircan M, Ceran C, Karaman A, et al. Urethral polyps in children: a review of the literature and report of two cases. Int J Urol. 2006;13:841–3.
Satoh S, Ujiie T, Kubo T, et al. Prostatic epithelial polyp of the prostatic urethra. Eur Urol. 1989;16:92–6.
Congenital Urethral Stricture
Cobb BG, Wolf JA, Ansell JS. Congenital stricture of the proximal urethral bulb. J Urol. 1968;99:629–31.
Moormann JG. Congenital bulbar urethral stenosis as a cause of diseases of the urogenital junction. Urologe A. 1972;11:157–60.
Blandy JP. Urethral stricture. Postgrad Med J. 1980;56:383–418.
Cranston D, Davies AH, Smith JC. Cobb’s Collar-a forgotten entity. Br J Urol. 1990;66:294–6.
Tombal B, Abi Aad A, Opsomer R, et al. Urethral stenosis in children: apropos of 33 pediatric cases. Acta Urol Belg. 1994;62:55–61.
Lacuna Magna (LM)
Guerin A. Elements de chirurgie operatoire. 3rd ed. Paris: Chamerot; 1864. p. 587.
Sommer JT, Stephens FD. Dorsal urethral diverticulum of the fossa navicularis: symptoms, diagnosis and treatment. J Urol. 1980;124:94–7.
Kajbafzadeh AM, Azadeh Elmi A, Payabvash S, et al. The urethral valve of Gue’rin and lacuna magna: clinical presentations and urodynamic findings. Pediatr Surg Int. 2007;23(9):873–8.
Congenital Urethral Stricture: Further Reading
Donkov I, editor. Current concepts of urethroplasty. Rijeka: In Tech Janeza Trdine; 2011.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Fahmy, M.A.B. (2015). Urethral Anomalies. In: Rare Congenital Genitourinary Anomalies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-43680-6_7
Download citation
DOI: https://doi.org/10.1007/978-3-662-43680-6_7
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-43679-0
Online ISBN: 978-3-662-43680-6
eBook Packages: MedicineMedicine (R0)