Penis and scrotum - Congenital Anomalies

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Penis and scrotum

Congenital anomalies

Editors: Antonio Cubilla, M.D. and Alcides Chaux, M.D. (see Author/Reviewers page)

Revised: 24 May 2010, last major update May 2010 - IN PROGRESS

Aphallia

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● Agenesis of penis caused by failure in embryologic development of genital tubercle

● Very rare, incidence of 1/10 million male births; <100 cases reported

● Associated with other GU abnormalities and with musculoskeletal and cardiopulmonary defects

● Can classify based on site of urethral meatus (J Urol 1989;141:589)

● Case reports: associated with urethro-rectal fistula (Saudi J Kidney Dis Transpl 2008;19:435), various anomalies (J Pediatr Surg 2010;45:E13)

Chordae (Chordee)

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● Fibrous band associated with hypospadias or epispadias that causes bending of penis

Concealed penis

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● Also called hidden or buried penis

● Penis is normally developed but hidden under fat in suprapubic region, scrotum, perineum, thigh

● May be complication of circumcision

● In adults, surgical repair may be complicated (J Sex Med 2009;6:876)

Diphallia

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● Duplication of penis

● Occurs in 1/5 million male births

● Associated with hypospadias, bifid scrotum, bladder duplication (Cir Pediatr 2008;21:235), renal agenesis

Epispadias

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● Urethra opens onto dorsal surface of penis

● Very rare, incidence of 1/300,000 male births

● Part of exstrophy-epispadias complex (Orphanet J Rare Dis 2009 Oct 30;4:23)

● Not related to hypospadias (has a different embryologic defect)

● Penopubic epispadias (opening in penopubic junction) is most common, associated with urinary incontinence

● Treatment is surgical

Hypospadias

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● Most common congenital abnormality of male external genitalia other than cryptorchidism

● Urethra opens onto ventral surface of penis or scrotum

● 3-5/1000 live male births

● Due to failure of fusion of urethral folds; may be due to mutations in MAMLD1 (CXorf6) gene (Horm Res 2009;71:245)

● Urethral opening is usually near glans

● Hypospadias and epispadias are associated with abnormal descent of testes, urinary tract malformations, obstruction, urinary tract infections, possibly infertility if orifices are near base of penis

● Classified by location of opening of meatus (see first image below):

A: Anterior (inferior surface of glans)
B: Coronal (in balanopenile furrow)
C: Distal third of shaft

D: Penoscrotal (at base of shaft in front of scrotum)
E: Scrotal (on scrotum or between the genital swellings)
F: Perineal (behind scrotum or genital swellings)

● Treatment is usually surgical unless hypospadias is minor (eMedicine)

Lateral curvature

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● Due to hypo/hyperplasia of one corpora cavernosa

● Surgical treatment is often effective (J Urol 2008;179:1495)

Median raphe cysts

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● Relatively common

● Due to anomalies in development of urethral groove, trapped epithelial cells or migration of epithelial cells after closure of genital folds

● Usually in foreskin or glans; may also be present in frenulum

● Lined by squamous, columnar, mucus-producing, apocrine-like or distal urethra-type epithelium

43 year old man (Dermatology Online Journal 2005;11:37), cyst lining cells are CK7+

Micropenis

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● Penis small, but normal ratio of shaft length to circumference

● Defined as stretched length < 2.5 standard deviations below mean for age (Wikipedia, eMedicine)

● Usually associated with endocrine abnormalities (insufficient androgen stimulation during embryologic growth of external genitalia, Arch Dis Child 1991;66:1033)

Torsion

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● Fibrous tissue surrounding corpus spongiosum or short urethra causes rotational defect of penile shaft

● Isolated neonatal torsion occurs in 27%, usually to the left (J Pediatr Urol 2007;3:495)

● Can be surgically corrected in adults, although patients often tolerate it without complaint (J Sex Med 2008;5:735)

Webbed penis

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● Scrotal skin extends to ventral portion of penis and hides it

End of Penis and scrotum > Congenital anomalies

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