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Genital Anomalies

  • Author: Luigi Avolio, MD; Chief Editor: Marc Cendron, MD  more...
 
Updated: Apr 24, 2015
 

Overview

Disorders of the external genitalia are especially troubling for parents because of the unconscious emotional significance of these reproductive structures and, probably, the consequent impact of deformities on future generations.

Approximately 50 years ago, researchers demonstrated that castrated rabbit embryos of both sexes developed as females, thus proving that testes are required for development of the male phenotype in mammals. Differentiation of the primitive gonad into testis is controlled by a multitude of genes, beginning with the sex-determining region on the Y chromosome (SRY), which is believed to represent the testis-determining factor.

Until 8 weeks' gestation, the human fetus is undifferentiated sexually and contains both male (wolffian) and female (müllerian) genital ducts. Wolffian structures differentiate into the vas deferens, epididymis, and seminal vesicles. Müllerian ducts develop into the fallopian tubes, uterus, and upper one third of the vagina.

In the male fetus, the genital tubercle enlarges to form the penis; the genital folds become the shaft of the penis; and the labioscrotal folds fuse to form the scrotum. Differentiation occurs during weeks 12-16 of gestation and is the result of testicular hormones acting on the undifferentiated genitalia in the following ways:

  • Testicular secretion of antimüllerian hormone (AMH), also known as müllerian inhibiting substance (MIS), leads to regression of the female müllerian structures
  • Testosterone and its active metabolite, dihydrotestosterone, determine full differentiation and stabilization of internal and external genitalia

In the female fetus, without the influence of the AMH, the müllerian ducts complete their differentiation, whereas the wolffian structures involute. In the absence of testosterone and dihydrotestosterone, the genital tubercle develops into the clitoris, and the labioscrotal folds do not fuse, leaving labia minora and majora.

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Anomalies in Males

Penile agenesis

Congenital absence of the penis (aphallia), is a rare anomaly caused by developmental failure of the genital tubercle. Its approximate incidence is 1 case per 30 million population. The phallus is completely absent, including the corpora cavernosa and corpus spongiosum; however, some children reportedly have small portions of corpora cavernosa. Usually, the scrotum is normal and the testes are maldescended. The urethra opens at any point of the perineal midline from over the pubis to, most frequently, the anus or anterior wall of the rectum.

More than 50% of patients with penile agenesis have associated genitourinary anomalies, the most common of which is cryptorchidism; renal agenesis and dysplasia also occur. Gastrointestinal (GI) defects, such as caudal axis anomalies, have also been described. Reports indicate that aphallia may be associated with pregnancy complicated by poorly controlled maternal diabetes.

Historically, these infants have undergone gender reassignment surgery, including bilateral orchiectomy with preservation of scrotal skin for later vaginal reconstruction, labial construction, and urethral transposition. However, questions remain regarding in-utero gender imprinting and long-term psychological effects of gender conversion; the timing, role, and necessity of gender reassignment are controversial. The long-accepted notion regarding the presence of a phallus or phenotypic phallic growth potential should not be the major criterion in recommending gender reassignment.

Because some studies have emphasized that most of these patients have a male sex identity despite reconstruction as female, male sex assignment has been recommended as a prudent decision.[1] Accordingly, patients with aphallia should be raised as male, though experience with phalloplasty in pediatric-age patients is limited.

The most commonly performed phalloplasty procedure in postpubertal patients is the microvascular transfer radial forearm flap. For congenital aphallia, encouraging reports have described a technique by De Castro,[2, 3] based on a suprapubic skin flap as initially described by Bettocchi et al.[4] An alternative surgical technique, especially for the presence of midline suprapubic abdominal scars, is a vascularized groin flap fashioned as reported by Perovic.[5]

Penile duplication

Duplication of the penis (diphallia) is another rare anomaly resulting from incomplete fusion of the genital tubercle. Two distinct forms of penile duplication are recognized, as follows:

  • The most common form is associated with bladder-exstrophy complex; the patient exhibits a bifid penis, which consists of two separated corpora cavernosa that are associated with two independent hemiglands
  • The second form (true diphallia) is an extremely rare congenital condition that presents in many ways, ranging from duplication of the glans alone to duplication of the entire lower genitourinary tract; the urethral opening can be in normal position or in a hypospadiac or epispadiac position

Associated anomalies of the GI, genitourinary, and musculoskeletal systems are expected. Because these anomalies are the principal causes of mortality, examining and treating patients for these conditions as soon as possible is important.

Microphallus

The term microphallus, or micropenis, is applicable only to a normally formed yet abnormally short penis. Specifically, the term applies to a penis with a stretched length that is more than 2.5 standard deviations (SD) below the mean for age.

This condition may be considered a minor form of ambiguous genitalia with correlated medical and psychological problems similar to those of the major intersex form. The scrotum is usually normal, but testes are often small and undescended. In a few cases, the corpora cavernosa are severely hypoplastic. Measurement (ie, stretched penile length) is very important in differenting the various types of pseudomicropenis, particularly the buried penis in the obese infant and the penis concealed by an abnormal skin attachment.

Micropenis results from a multiplicity of endocrine and nonendocrine conditions. The most common etiologies are as follows:

  • Hypogonadotropic hypogonadism - In this condition, secretion of gonadotropin-releasing hormone (GnRH) by the hypothalamus is impaired, which leads to decreased pituitary secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), depriving the testis of its stimulus to secrete testosterone; this pathogenesis is recognized in some hypothalamic dysfunctions, such as Kallmann syndrome or Prader-Willi syndrome
  • Hypergonadotropic hypogonadism - Micropenis secondary to this condition is associated with conditions in which the testes are functionally impaired and unable to respond to hypothalamic-pituitary stimulation (eg, gonadal dysgenesis)
  • Idiopathic micropenis - In this condition, endocrine analysis demonstrates a normal hypothalamic-pituitary-testicular axis

Because micropenis is the result of numerous pathologic conditions, assignment of sex of rearing generally is deferred until a physician determines whether the penis can grow in response to testosterone administration. In individuals with microphallus who are insensitive to the androgen, castration and gender conversion can be considered. However, in most patients with micropenis, male gender assessment can be maintained with androgen stimulation.

Clinical management of this form of micropenis has been contentious, with disagreement regarding the capacity of testosterone treatment to induce a functionally adequate adult penis; moreover, there is no general consensus regarding dosage, method of administration, timing, and duration of androgen treatment. The most common therapeutic regimen includes testosterone enanthate, 25-50 mg intramuscularly (IM) once a month for 3 months. Some physicians also use testosterone cream, but its absorption varies and is not easily controllable.

Debate also surrounds the timing of androgen stimulation. Research indicates that testosterone therapy in infancy and childhood augments penile size into the normal range for age in boys with micropenis secondary to fetal testosterone deficiency.[6] Replacement therapy at the age of puberty results in an adult-size penis (ie, within 2 SD of the mean). Results of this study do not support the notion (derived from research on rats), that testosterone treatment in infancy or childhood impairs penile growth in adolescence and compromises adult penile length.

Penile torsion

Verneuil first described penile torsion in 1857. In the past, physicians did not recommend operative correction, because they believed that attempts to move the skin would not correct spiral alignment of the corpora cavernosa.

The embryologic abnormality is often an isolated skin and dartos defect that can be remedied simply by freeing the penile shaft of its investing tissue. The rotation is usually to the left in a counterclockwise fashion. The urethral meatus is placed in an oblique position, and the median raphe makes a spiral curve from the base of the penis to the meatus. However, in some cases, penile torsion is associated with mild forms of hypospadias or hooded prepuce.

Frequently, torsion is corrected by reflection of the skin and dartos tunic only. In some cases, resection of the Buck fascia provides correction. Careful alignment of the skin during closure gives an excellent cosmetic result, even when the torsion is not corrected by reflection of the penile investments. The ease of achieving a normal appearance seems to justify surgical correction.

Lateral penile curvature

Congenital penile curvature secondary to asymmetry of corpora cavernosa length is an uncommon penile deformity. Hemihypertrophy of a corpus cavernosum and thickening of its accompanying tunica albuginea, with or without contralateral concomitant hypoplasia (rudimentary corpus), are responsible for the lateral deviation in congenital curvature of the penis. Rarely, penile deviation is accompanied by penile torsion. The anomaly can be associated with trauma, but often the patient does not have a history of corporal injury.

Although the deformity generally is not severe enough to preclude sexual intercourse, it can be a source of great concern to the patient and may cause him to avoid sexual contact. The Nesbit procedure is a simple effective surgical technique to correct lateral or ventral curvature.

Penoscrotal transposition

Complete penoscrotal transposition is an uncommon condition in which the scrotum is located in a cephalad position with respect to the penis. A less severe form is a bifid scrotum, in which the two halves of the scrotum meet above the penis. It is a heterogeneous anomaly, and detection warrants careful clinical evaluation to rule out other major and life-threatening anomalies, especially of the urinary system, GI tract, upper limbs, craniofacial region, and central nervous system (CNS).

Major renal anomalies include complete agenesis of the urinary system, unilateral or bilateral renal agenesis, polycystic or dysplastic kidneys, horseshoe kidney, ectopic pelvic kidney, and obstructive uropathy. Genital abnormalities include a disproportionately long flaccid penis, complete urethral atresia, and hypospadias.

Although most reported cases are sporadic, some suggest a genetic basis for a normal penoscrotal relation. The embryologic sequence responsible for this defect remains unclear. Abnormal positioning of the genital tubercle in relation to the scrotal swellings during the critical period at 4-5 weeks' gestation may affect the inferomedial migration and fusion of the scrotal swellings.

If the phallic tubercle is also intrinsically abnormal, development of the corporal bodies and the urethral groove and folds may be affected; this explains the frequent occurrence of the other genital abnormalities. Accurate prenatal diagnosis of this malformation using ultrasonography has been demonstrated.[7]

Surgical correction is recommended for physiologic and psychological reasons. When associated with severe hypospadias, penoscrotal transposition may involve a staged surgical repair. Scrotoplasty is completed with an inverted omega skin incision that is made around the scrotal skin and the base of the penis, bringing the scrotal flaps beneath the penis.

Webbed and buried penis

Webbed penis (see the image below) is a common congenital abnormality in which a web or fold of scrotal skin obscures the penoscrotal angle. If the physician performing circumcision does not recognize the condition, the penis may become buried in a tentlike fold of skin. Recircumcision to remove the excess skin makes the situation worse by drawing hair-bearing scrotal skin onto the penis.

Webbed penis. Webbed penis.

In hidden penis, the penile shaft is buried below the surface of the prepubic skin. This happens in children with obesity because the prepubic fat is very abundant and hides the penis. The condition may also derive from poor anchorage of penile skin to deep fascia or may be acquired when the shaft of the penis is entrapped in scarred prepubic skin after an extreme circumcision or other trauma.

The literature describes numerous techniques for correction.[8] Usually, treatment is based on resection of adherent bands and deep anchorage of the shaft at the basis of the penis. Some also advocate excision of redundant skin, multiple Z-plasties, liposuction, or preputial island pedicle flap. Others advocate watchful waiting, with emphasis on weight loss and yearly follow-up. Ruling out micropenis in this situation is important.

Megaprepuce

Congenital megaprepuce is a rare malformation of unknown etiology that is characterized by extensive redundancy of the inner preputial skin, which causes the penis to be buried within the prepuce.[9, 10, 11] An enormous preputial cavity surrounds the entire shaft before micturition. In one of the first reported patients affected by congenital megaprepuce, micturating cystography was performed; the preputial volume was so huge that it was defined as a “preputial bladder.”[9]

The aspect of congenital megaprepuce is typical: the penis is totally buried and before the micturition is an enormous preputial cavity surrounding the entire shaft. Numerous surgical techniques have been described to correct this anomaly. The cosmetic arrangement of the shaft skin, especially in the ventral part, is the more difficult step of reconstructive surgery.

Unfortunately, congenital megaprepuce is one such congenital deformity that at birth often goes unrecognized: circumcision with congenital megaprepuce yields catastrophic complications.

Scrotal agenesis

Aside from penoscrotal transposition, the scrotum is generally resistant to embryologic abnormalities; therefore, congenital malformations are unusual. Congenital absence of the scrotum is an extremely rare anomaly[12] ; according to a report by Corona-Rivera et al, only nine cases (seven bilateral and two unilateral) had been described in the literature as of January 2014.[13]

Reports indicated that upon examination, the scrotum was not present, the skin between the base of penis and the anus was completely flat without rugosa, and both testes were retained in the tubercle area lateral to the base of the penis. Only minor associated abnormalities, including slight bilateral clinodactyly in both fourth toes and bilateral nystagmus, were noted. Chromosomal and hormonal anomalies were not reported.

The idea of constructing the scrotum with a pedicle flap from the perineal skin was discarded. In view of the subsequent development of the neoscrotum, the preputial skin was used because it is richer than other tissues in androgen receptors. The procedures were uneventful, and the results were functionally and cosmetically satisfactory. (See the images below.)

Agenesis of scrotum in 6-month-old child. Agenesis of scrotum in 6-month-old child.
Agenesis of scrotum after scrotal reconstruction w Agenesis of scrotum after scrotal reconstruction with preputial skin. Appearance of external genitalia is normal.

Ectopic and accessory scrotum

Ectopic scrotum is a rare anomaly that includes an anomalously positioned hemiscrotum. Usually, the ectopic scrotum is found near the external inguinal ring, but it may assume several forms. Accessory scrotum is a small empty pouch of scrotal tissue attached to the scrotum or the perineum. One review identified 16 reported cases of a suprainguinal ectopic scrotum, four cases of a femoral ectopic scrotum, and 19 cases of accessory perineal scrotum.[14]

The testis generally accompanies the hemiscrotum to its abnormal position and may be normal or dysplastic. These congenital lesions of the scrotum can occur as an isolated anomaly but are often accompanied by abnormalities of the upper urinary tract.

Accessory perineal scrotum has also been observed in association with anorectal malformation. The gubernaculum is a prerequisite for the ultimate location of both the testis and scrotum, and its role is complicated by subsequent differential growth of the labioscrotal folds in which the gubernaculum is stabilized. If this interaction is disturbed, the result may be suprainguinal ectopia, penoscrotal transposition, or perineal scrotum.

Although the etiology of these malformations is probably multifactorial, the existence of an inbred strain of rats that are characterized by a high incidence of ectopic scrotum suggests a genetic component to this anomaly.

Treatment should attempt to bring down the scrotum and the testis. If the gonad is dysplastic and the ectopic scrotum is rudimentary, consider removal of one or both structures.

Splenogonadal fusion

Splenogonadal fusion is a congenital anomaly that affects both sexes, with a male-to-female ratio of 16:1. In males, the left testicle or other derivatives of the mesonephros connect to splenic tissue, usually an accessory spleen. In the female, a similar fusion occurs between the left ovary and splenic tissue. The connection may be either continuous (56%) or discontinuous (44%). In the continuous type, the spleen is connected to the gonad by a strand of tissue.

Patients often exhibit limb defects, micrognathia, or other congenital malformations, such as anal atresia, microgastria, spina bifida, craniosynostosis, thoracopagus, diaphragmatic hernia, hypoplastic lung, and abnormal lung fissures. The discontinuous type is not usually associated with congenital defects, and the fused gonad has no connection with the native spleen.

Reports total approximately 140 cases, mostly in the urology and pathology literature.[15, 16, 17, 18] This is because diagnosis typically occurs during orchiopexy or herniorrhaphy, or on autopsy.

In many cases, the accessory spleen that is attached to the testicle may be misinterpreted as a primary malignant testicular tumor or an adenomatoid tumor. Knowledge of this distinction is important if the testis is to be preserved at surgery, although a rare case of simultaneous splenogonadal fusion and mixed malignant tumor of the testis has been reported.[19]

If splenogonadal fusion is suspected preoperatively, technetium-99m radiocolloid spleen scintigraphy can establish the correct diagnosis and permit testicular salvage. Simple excision of the splenic nodule is sufficient in all cases of discontinuous fusion. In continuous splenogonadal fusion, exploratory laparotomy is usually required to clarify the anatomy.

Patient education

For patient education resources, see the Men's Health Center, as well as The Male Anatomy.

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Anomalies in Females

Labial adhesion

Labial adhesion (see the image below) is an anomaly frequently encountered in young girls; generally, it results from chronic inflammation of the vulva. This condition must be distinguished from labial fusion, a different lesion attributed to virilization of the female external genitalia.

Labial adhesion in 3-year-old girl. Labial adhesion in 3-year-old girl.

Labial adhesion usually is asymptomatic, but when the introitus is completely sealed, vaginal micturition with consequent dribbling can occur; moreover, urinary stasis can predispose the child to infection. A single case of hydroureteronephrosis has been reported as an extreme and unusual complication that resolved after incision of the adherent labia.

Treatment consists of topical application of 1% estrogen cream three times daily for 2 weeks; this is usually ineffective but does facilitate subsequent manual lysis. The procedure may be performed in an office setting with a probe or with the gentle action of a finger. When the lesions are dense, the patient may require sedation. Topical application of estrogen or antibiotic cream after the procedure is important to avoid recurrence of the adhesion.

Ectopic labium and clitoral duplication

Ectopic labium majus is a rare anomaly and is homologous with ectopic scrotum in the male. It has been reported with renal agenesis or dysplasia and the VATER (vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, renal anomalies) association. Clitoral duplication is usually seen in bladder exstrophy/epispadias complex in girls.

Clitoral hypertrophy

Hypertrophy of the clitoris (see the image below) is observed in cases of fetal exposure to androgens. The disorder is usually the result of congenital deficiencies of the adrenal enzymes of cortisol synthesis; more rarely, it is caused by idiopathic virilization or exposure to progestational agents in utero. Although rare, clitoral hypertrophy caused by neurofibromas of the clitoral corpora has been described, including a case of localized neurofibromatous infiltration of the prepuce only.

Isolated idiopathic clitoral hypertrophy. Isolated idiopathic clitoral hypertrophy.

Treatment is dictated by the degree of masculinization, specifically by the degree of clitoral hypertrophy and, if relevant, the level at which the vagina enters the urogenital sinus. Reduction clitoroplasty with resection of the corpora according to the Spence-Allen technique gives better results than the technique described by Pelleren. Furthermore, the Pelleren plication technique often is complicated by painful engorgement of the recessed corpora at puberty.

Interlabial masses

Identification of an interlabial mass in a young girl may cause much concern in parents and physicians because of confusion about its etiology, implications, and treatment. However, knowledge of the most frequent anomalies responsible for interlabial mass may allow a prompt and correct diagnosis.

Urethral prolapse

Urethral prolapse, an uncommon entity that primarily occurs in prepubertal black girls, involves circumferential eversion of a portion of the distal urethral mucosa through the external meatus. Patients are identified by perineal bleeding and diagnosed upon physical examination. Anatomic defects include marked eversion of the urethral mucosa, vascular congestion of the corpus spongiosum urethrae muliebris, and a cleavage plane between the inner longitudinal and outer circular-oblique smooth muscle layers of the urethra.

Some suggest that urethral prolapse results from poor attachments between the smooth muscle layers of the urethra that are aggravated by episodic increases in intra-abdominal pressure. Treatment consists of excising the prolapsed urethral mucosa and suturing the remaining mucosa to the vestibule.

Prolapsed ectopic ureterocele

Another cause of interlabial mass, prolapsed ectopic ureterocele, appears as a smooth cystic mass that sometimes obscures the urethral meatus. Most ectopic ureteroceles are associated with an upper moiety of a duplex system. Ureterocele is associated with protean manifestations, often involving four renal units. Any combination of vesicoureteral reflux or obstruction in any of the associated renal units may result, but upper-pole obstruction and lower-pole reflux are most common.

Management of this condition remains controversial but may be endoscopic or surgical; function of the upper moiety may be the decisive factor.

Hydrocolpos or hydrometrocolpos

Accumulation of fluid due to congenital vaginal obstruction is the cause of hydrocolpos (ie, distention of the vagina) and hydrometrocolpos (ie, distention of the vagina and uterus). The obstruction is frequently caused by imperforate hymen or, less commonly, transverse vaginal septum. Obstructing genital anomalies may present at birth with mucocolpos, but the obstructive anomaly is often asymptomatic and escapes detection.

An imperforate hymen is often difficult to diagnose perinatally because of the small size of the genitalia and the influence of maternal estrogens, which cause thickening and enlargement of the labia minora. The neonate with hydrocolpos related to congenital vaginal obstruction can present with a bulging interlabial cyst (see the image below), associated with a mass in the lower abdominal quadrants, often inducing urinary tract obstruction.

Hydrocolpos in female neonate presenting as interl Hydrocolpos in female neonate presenting as interlabial bulging cyst.

Diagnosis is the most difficult aspect of management. In the past, the abdominal swelling was sometimes mistaken for an ovarian cyst, and the patient was subjected to laparotomy. Today, abdominal ultrasonography helps determine the correct diagnosis, revealing a large midline translucent mass displacing the bladder forward. If the imperforate hymen is not associated with a palpable mass on rectal examination, surgical correction can be delayed until tissues are estrogenized; however, it should be performed before the occurrence of hematocolpos.

If no abdominal mass is present at birth, congenital vaginal obstruction becomes evident only at menarche, when the child presents with the features of puberty, primary amenorrhea, and intermittent or chronic lower abdominal pain, which is probably caused by accumulation of menstrual blood (ie, hematocolpos).

The vagina can accommodate a considerable volume of blood, but a small amount may collect in the uterus (ie, hematometra). Physical signs are similar to those of hydrocolpos and include lower abdominal mass and a bulging membrane at introitus (bluish in this case; see the image below). Treatment consists of a cruciate incision in the membrane with excision of the excess tags; usually, no further procedure is necessary.

Hematometrocolpos resulting from imperforate hymen Hematometrocolpos resulting from imperforate hymen. Patient presents with bluish bulging membrane at introitus.

Sarcoma botryoides or rhabdomyosarcoma

Sarcoma botryoides or rhabdomyosarcoma is another cause of interlabial mass and the most common malignant tumor of the lower genitourinary tract in infant girls. The presenting symptoms may be vaginal bleeding or a firm grapelike vaginal mass protruding through the introitus. Patients presenting with this tumor should be completely evaluated with ultrasonography and computed tomography (CT).

Other masses of the introitus include polyps of the urethra,[20] hymen (see the first image below), and vagina (see the second image below). In these cases, surgical resection is mandatory to assess the histology and to exclude neoplastic lesions (especially rhabdomyosarcoma).

Hymenal polyp. Hymenal polyp.
Vaginal polyp. Vaginal polyp.

Periurethral cyst

Periurethral cyst is a rare lesion that probably arises from embryonic remnants of the urogenital ducts, müllerian structures, or mesonephric (Gartner) duct. Diagnosis is based on identification of the cyst on the urethral meatus and direct needle aspiration of a small quantity of its milky fluid. Spontaneous rupture or regression has been observed, but incision and drainage are indicated for persistent lesions.

Similar cystic lesions have been described in males. Since the first report in 1956 by Thomson and Latin, fewer than 50 other cases have been reported. The origin of these cysts is unknown, but they may result from a parameatal glans. Treatment consists of simple unroofing or total excision of the lining to avoid recurrence.

Persistent urogenital sinus and cloaca

Congenital malformation involving the urogenital sinus and cloaca remains one of the most severe birth defects compatible with life. Moreover, management of this malformation is one of the greatest challenges of pediatric surgery and urology. Development of the lower urinary tract and genital and anorectal systems is correlated closely in females. Consequently, abnormal embryologic development can involve all three systems.

Despite the long tradition of embryologic studies, the mechanisms of development of many congenital malformations are still debated. In very young embryos, the hindgut is a simple structure that, cranially, is in continuity with the midgut and, caudally, is in contact with the ectoderm, thus forming the cloacal membrane.

As development progresses, the caudal part of the hindgut or cloaca separates into two distinct organ systems, the urogenital tract and the anorectal tract. This separation may be the result of a subdivision of the cloaca by a septum, the so-called urorectal septum. However, the nature of this septum and its mechanism of development are controversial.

Kluth and Lambrecht demonstrated that the hindgut enters the cloaca from the dorsocranial direction, whereas the allantois (ie, the forerunner of the bladder) can be individuated as a cranioventral diverticulum.[21] The urorectal folds can be observed between this diverticulum and the hindgut, marking the cranial border of the undifferentiated hindgut or cloaca.

The importance of the septation process has likely been overestimated, and normal development of the hindgut probably depends primarily on normal formation of the cloacal membrane. After the cloacal septum separates the hindgut from the urogenital sinus, the fused caudal ends of the müllerian ducts form the müllerian tubercle as they come in contact with the posterior aspect of the sinus.

Persistence of the urogenital sinus can be associated with anorectal anomalies. Two different situations can arise. In the first, agenesis of Rathke plicae and failure of the müllerian ducts to migrate to the vestibule result in a persistent cloaca with a possibly septated vagina; in the second, defective caudal migration of the müllerian ducts or failure of the distal sinus to evert gives rise to persistence of the urogenital sinus after urorectal septation has occurred.

Clinically, persistent urogenital sinus in females is classified into the following three categories:

  • Simple urogenital sinus in patients with normal anus and rectum and without intersex conditions ( disorders of sexual development [DSDs])
  • Urogenital sinus in patients with DSDs
  • Urogenital sinus associated with anorectal malformation (ie, persistent cloaca)

Simple urogenital sinus is defined as a common channel into which genital and urinary tracts both open. Depending on timing of the arrest of vaginal differentiation, various degrees of anomaly can be identified, as follows:

  • A long urogenital sinus with a short vagina and a high urethral opening characterize an early-stage defect
  • Later-stage anomalies are characterized by a short urogenital sinus with an almost normal vagina and low urethral orifice
  • The most severe degree of urogenital sinus persistence often is associated with anterior displacement of the anus, suggesting that a urorectal septum anomaly also is involved

The most important points in patient evaluation are definition of the exact anatomic picture, investigation of other anomalies (especially of the genital and urinary tracts), and identification of the mechanism of incontinence, if present.

Genitography, with retrograde injection of contrast material, is useful to delineate the anatomic aspects of the sinus and to clarify the relation between the vagina and the urethra. Voiding cystourethrography, urodynamic studies, and endoscopy are essential. Ultrasonography of the upper urinary system and pelvis can help screen for associated anomalies and define internal genital anatomy.

Anatomy dictates treatment. If the urogenital sinus is low, simple U-flap vaginoplasty is effective in correcting the anomaly. If the vaginal entry into the urogenital sinus is high, more challenging surgery is needed. In fact, a division of the vaginal moiety with an associated pull-through vaginoplasty is needed. Moreover, relocation of the anus, if displaced anteriorly, may be necessary.

Persistent urogenital sinus may be associated with an anorectal anomaly called persistent cloaca. Girls with persistent cloaca have the typical appearance of a closed perineum with a single orifice located behind the clitoris and no anus or vagina. If the convergence of bladder, vagina, and colon is low, the appearance may be of a relatively normal female perineum with imperforate anus. In such patients, obstruction of the urinary system is uncommon, because it opens, like the vagina and rectum, into a wide funnel-shaped urogenital sinus that drains freely.

However, when the three organ systems converge at a higher level, the urogenital sinus is long. Frequently, the skin folds around the clitoris are so prominent that the structure has the appearance of a penis, thus inducing an erroneous gender assignment. In these cases, obstruction of the urinary tract is common.

Treatment of the various forms of persistent cloaca is one of the most challenging problems of reconstructive surgery in pediatrics. Once the anatomy has been clearly defined, surgery may be performed. Most surgeons perform a colostomy to relieve colon obstruction. Distention of the bladder and vagina, which often obstructs both ureters, may be relieved by intermittent catheterization, thus avoiding the necessity of vesicostomy or vaginostomy. Complete definitive reconstruction for cloacal persistence should be deferred until the child is older than 1 year.

When the sinus is shorter than 3 cm, the rectum is mobilized and detached from the vagina. The sinus should not be opened but should be mobilized and brought down intact. The common channel is divided and the separated openings of the urethra and vagina are placed in their normal positions. When the common channel of the cloaca is longer than 3 cm, the posterior approach to correction is preferred. Hendren has emphasized the necessity of correcting both urinary and rectal defects simultaneously.[22, 23]

Patient education

For patient education resources, see the Women's Health Center.

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Contributor Information and Disclosures
Author

Luigi Avolio, MD Consulting Staff, Department of Pediatric Surgery, IRCCS Policlinico San Matteo at Pavia, Italy

Luigi Avolio, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Harry P Koo, MD Chairman of Urology Division, Director of Pediatric Urology, Professor of Surgery, Virginia Commonwealth University School of Medicine, Medical College of Virginia; Director of Urology, Children's Hospital of Richmond

Harry P Koo, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Urological Association

Disclosure: Nothing to disclose.

Chief Editor

Marc Cendron, MD Associate Professor of Surgery, Harvard School of Medicine; Consulting Staff, Department of Urological Surgery, Children's Hospital Boston

Marc Cendron, MD is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, New Hampshire Medical Society, Society for Pediatric Urology, Society for Fetal Urology, Johns Hopkins Medical and Surgical Association, European Society for Paediatric Urology

Disclosure: Nothing to disclose.

Additional Contributors

Martin David Bomalaski, MD, FAAP Pediatric Urologist, Alaska Urology; Clinical Assistant Professor, Seattle Children's Hospital

Martin David Bomalaski, MD, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Urological Association

Disclosure: Nothing to disclose.

References
  1. Meyer-Bahlburg HF. Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav. 2005 Aug. 34(4):423-38. [Medline].

  2. De Castro R, Merlini E, Rigamonti W, Macedo A Jr. Phalloplasty and urethroplasty in children with penile agenesis: preliminary report. J Urol. 2007 Mar. 177(3):1112-6; discussion 1117. [Medline].

  3. Willihnganz-Lawson KH, Malaeb BS, Shukla AR. De Castro technique used to create neophallus: a case of aphallia. Urology. 2012 May. 79(5):1149-51. [Medline].

  4. Bettocchi C, Ralph DJ, Pryor JP. Pedicled pubic phalloplasty in females with gender dysphoria. BJU Int. 2005 Jan. 95(1):120-4. [Medline].

  5. Perovic S. Phalloplasty in children and adolescents using the extended pedicle island groin flap. J Urol. 1995 Aug. 154(2 Pt 2):848-53. [Medline].

  6. Bin-Abbas B, Conte FA, Grumbach MM, Kaplan SL. Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated. J Pediatr. 1999 May. 134(5):579-83. [Medline].

  7. Wang Y, Cai A, Sun J, Li T, Wang B, Li J. Prenatal diagnosis of penoscrotal transposition with 2- and 3-dimensional ultrasonography. J Ultrasound Med. 2011 Oct. 30(10):1397-401. [Medline].

  8. Dilley AV, Currie BG. Webbed penis. Pediatr Surg Int. 1999 Jul. 15(5-6):447-8. [Medline].

  9. O'Brien A, Shapiro AM, Frank JD. Phimosis or congenital megaprepuce?. Br J Urol. 1994 Jun. 73(6):719-20. [Medline].

  10. Summerton DJ, McNally J, Denny AJ, Malone PS. Congenital megaprepuce: an emerging condition--how to recognize and treat it. BJU Int. 2000 Sep. 86(4):519-22. [Medline].

  11. Ferro F, Spagnoli A, Spyridakis I, Atzori P, Martini L, Borsellino A. Surgical approach to the congenital megaprepuce. J Plast Reconstr Aesthet Surg. 2006. 59(12):1453-7. [Medline].

  12. Janoff DM, Skoog SJ. Congenital scrotal agenesis: description of a rare anomaly and management strategies. J Urol. 2005 Feb. 173(2):589-91. [Medline].

  13. Corona-Rivera JR, Acosta-León J, León-Hernández MÁ, Martínez-Macías FJ, Bobadilla-Morales L, Corona-Rivera A. Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body. Am J Med Genet A. 2014 Jan. 164A(1):199-203. [Medline].

  14. Hoar RM, Calvano CJ, Reddy PP, Bauer SB, Mandell J. Unilateral suprainguinal ectopic scrotum: the role of the gubernaculum in the formation of an ectopic scrotum. Teratology. 1998 Feb. 57(2):64-9. [Medline].

  15. Balaji KC, Caldamone AA, Rabinowitz R, Ortenberg J, Diamond DA. Splenogonadal fusion. J Urol. 1996 Aug. 156(2 Pt 2):854-6. [Medline].

  16. Jequier S, Hanquinet S, Lironi A. Splenogonadal fusion. Pediatr Radiol. 1998 Jul. 28(7):526. [Medline].

  17. Karaman MI, Gonzales ET Jr. Splenogonadal fusion: report of 2 cases and review of the literature. J Urol. 1996 Jan. 155(1):309-11. [Medline].

  18. Steinmetz AP, Rappaport A, Nikolov G, et al. Splenogonadal fusion diagnosed by spleen scintigraphy. J Nucl Med. 1997 Jul. 38(7):1153-5. [Medline].

  19. Thomsen BM, Wierod FS, Rasmussen KC. Combined malignant testicular tumor and splenogonadal fusion. A case story. Scand J Urol Nephrol. 1997 Aug. 31(4):393-5. [Medline].

  20. Akbarzadeh A, Khorramirouz R, Saadat S, Hiradfar M, Kajbafzadeh AM. Congenital urethral polyps in girls: as a differential diagnosis of interlabial masses. J Pediatr Adolesc Gynecol. 2014 Dec. 27(6):330-4. [Medline].

  21. Kluth D, Lambrecht W. Current concepts in the embryology of anorectal malformations. Semin Pediatr Surg. 1997 Nov. 6(4):180-6. [Medline].

  22. Hendren WH. Management of cloacal malformations. Semin Pediatr Surg. 1997 Nov. 6(4):217-27. [Medline].

  23. Hendren WH. Urogenital sinus and cloacal malformations. Semin Pediatr Surg. 1996 Feb. 5(1):72-9. [Medline].

  24. Aaronson IA. Micropenis: medical and surgical implications. J Urol. 1994 Jul. 152(1):4-14. [Medline].

  25. Acien M, Acien P. Details of genital tract malformations. Fertil Steril. 2008 Aug. 90(2):466-7; author reply 467. [Medline].

  26. Alter GJ, Ehrlich RM. A new technique for correction of the hidden penis in children and adults. J Urol. 1999 Feb. 161(2):455-9. [Medline].

  27. Anhalt H, Neely EK, Hintz RL. Ambiguous genitalia. Pediatr Rev. 1996 Jun. 17(6):213-20. [Medline].

  28. Azmy A, Eckstein HB. Surgical correction of torsion of the penis. Br J Urol. 1981 Aug. 53(4):378-9. [Medline].

  29. Calikoglu AS. Should boys with micropenis be reared as girls? [editorial]. J Pediatr. 1999 May. 134(5):537-8. [Medline].

  30. Chadha R, Mann V, Sharma A, Bagga D. Complete penoscrotal transposition and associated malformations. Pediatr Surg Int. 1999. 15(7):505-7. [Medline].

  31. Ciftci AO, Senocak ME, Buyukpamukcu N. Male gender assignment in penile agenesis: a case report and review of the literature. J Pediatr Surg. 1995 Sep. 30(9):1358-60. [Medline].

  32. Colapinto, John. As Nature Made Him - The boy who was raised as a girl. New York, NY: Harper Collins; 2000.

  33. Dean JA, Horton CE. Diphallia and hindgut duplication. Plast Reconstr Surg. 1991 Feb. 87(2):358-61. [Medline].

  34. Elder JS. Congenital anomalies of the genitalia. Walsh PC, Retik AB, Stamey TA, Vaughn ED, eds. Campbell's Urology. Philadelphia, Pa: WB Saunders; 1992. 1920-38.

  35. Elder JS, Jeffs RD. Suprainguinal ectopic scrotum and associated anomalies. J Urol. 1982 Feb. 127(2):336-8. [Medline].

  36. Evans JA, Erdile LB, Greenberg CR, Chudley AE. Agenesis of the penis: patterns of associated malformations. Am J Med Genet. 1999 May 7. 84(1):47-55. [Medline].

  37. Ferro F, Lais A, Korman R, Caterino S. Accessory perineal scrotum associated with anorectal malformation. A report of 2 cases. S Afr J Surg. 1991 Mar. 29(1):32-4. [Medline].

  38. Fitzpatrick TJ. Hemihypertrophy of the human corpus cavernosum. J Urol. 1976 May. 115(5):560-1. [Medline].

  39. Gonzales R, Barthold JS. Urogenital sinus and cloaca. Gonzales ET, Bauer SB, eds. Pediatric Urology Practices. Philadephia, Pa: Lippencott, Williams and Wilkins; 1999. 673-85.

  40. Goswami AK, Jolly BB, Sharma SK. Massive prolapsing orthotopic ureterocele. Urol Int. 1993. 50(4):229-30. [Medline].

  41. Griebel ML, Redman JF, Kemp SF, Elders MJ. Hypertrophy of clitoral hood: presenting sign of neurofibromatosis in female child. Urology. 1991 Apr. 37(4):337-9. [Medline].

  42. Gripp KW, Barr M Jr, Anadiotis G, et al. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother. Am J Med Genet. 1999 Feb 19. 82(5):363-7. [Medline].

  43. Gunaydin M, Ariturk E, Rizalar R, et al. Unilateral inguinal ectopic scrotum and imperforate anus: a case report. J Pediatr Surg. 1997 Sep. 32(9):1360-1. [Medline].

  44. Hendren WH. The genetic male with absent penis and urethrorectal communication: experience with 5 patients. J Urol. 1997 Apr. 157(4):1469-74. [Medline].

  45. Hensle TW. Genetic anomalies. Gillenwater JY, Graycheck JT, Howards SS, Duckett JW, eds. Adult and Pediatric Urology. St. Louis, Mo: Mosby; 1996. 2529-47.

  46. Husmann DA, Cain MP. Microphallus: eventual phallic size is dependent on the timing of androgen administration. J Urol. 1994 Aug. 152(2 Pt 2):734-9. [Medline].

  47. Klee LW, Rink RC, Gleason PE, et al. Urethral polyp presenting as interlabial mass in young girls. Urology. 1993 Feb. 41(2):132-3. [Medline].

  48. Kojima Y, Hayashi Y, Maruyama T. Correction of completely buried penis using the modified preputial island pedicle flap method. J Pediatr Surg. 1999 Oct. 34(10):1524-6. [Medline].

  49. Leung AK, Robson WL. Labial fusion and urinary tract infection. Child Nephrol Urol. 1992. 12(1):62-4. [Medline].

  50. Levitt MA, Stein DM, Pena A. Gynecologic concerns in the treatment of teenagers with cloaca. J Pediatr Surg. 1998 Feb. 33(2):188-93. [Medline].

  51. Lipszyc E, Pfister C, Liard A, Mitrofanoff P. Surgical treatment of buried penis. Eur J Pediatr Surg. 1997 Oct. 7(5):292-5. [Medline].

  52. Lowe FC, Hill GS, Jeffs RD, Brendler CB. Urethral prolapse in children: insights into etiology and management. J Urol. 1986 Jan. 135(1):100-3. [Medline].

  53. Maizels M, Zaontz M, Donovan J, Bushnick PN, Firlit CF. Surgical correction of the buried penis: description of a classification system and a technique to correct the disorder. J Urol. 1986 Jul. 136(1 Pt 2):268-71. [Medline].

  54. Marrocco G, Poscente M, Majore S, et al. Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia. J Pediatr Surg. 2003 Aug. 38(8):1258-62. [Medline].

  55. Maruyama K, Takahashi A, Kobayashi T, Hatakeyama S, Matsuo Y. Diphallia and the VATER association. J Urol. 1999 Dec. 162(6):2144. [Medline].

  56. Merguerian PA, McLorie GA. Disorders of the female genitalia. Kelalis PP, King LR, Belman AB, eds. Clinical Pediatric Urolology. Philadelphia, Pa: WB Saunders; 1992. 1084-1105.

  57. Mohan PP, Woodward MN, Chandran H, Parashar K. Topical testosterone in scrotal agenesis. Pediatr Surg Int. 2006 Jun. 22(6):565-6. [Medline].

  58. Montero M, Mendez R, Tellado M, Vela D, Pais E, Gallego M. Agenesis of the scrotum. Pediatr Dermatol. 2001 Mar-Apr. 18(2):141-2. [Medline].

  59. Montero M, Mendez R, Tellado M, Vela D, Pais E, Gallego M. Agenesis of the scrotum. Pediatr Dermatol. 2001 Mar-Apr. 18(2):141-2. [Medline].

  60. Moore PJ, Hawkins EP, Galliani CA, Guerry-Force ML. Splenogonadal fusion with limb deficiency and micrognathia. South Med J. 1997 Nov. 90(11):1152-5. [Medline].

  61. Nishimura K, Sugao H, Sato K. Neurofibroma of the clitoris. A case report. Urol Int. 1991. 46(1):109-11. [Medline].

  62. Norbeck JC, Ritchey MR, Bloom DA. Labial fusion causing upper urinary tract obstruction. Urology. 1993 Aug. 42(2):209-11. [Medline].

  63. Nussbaum AR, Lebowitz RL. Interlabial masses in little girls: review and imaging recommendations. AJR Am J Roentgenol. 1983 Jul. 141(1):65-71. [Medline].

  64. Parida SK, Hall BD, Barton L, Fujimoto A. Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. Am J Med Genet. 1995 Oct 23. 59(1):68-75. [Medline].

  65. Pena A, Kessler O. Posterior cloaca: a unique defect. J Pediatr Surg. 1998 Mar. 33(3):407-12. [Medline].

  66. Pomerantz P, Hanna M, Levitt S, Kogan S. Isolated torsion of penis. Report of 6 cases. Urology. 1978 Jan. 11(1):37-9. [Medline].

  67. Redman JF. Torsion of the penis: a gross anatomic study. J Urol. 1983 Aug. 130(2):316-8. [Medline].

  68. Rock SD, Gearhart JP. Complete lower urinary tract duplication with true diphallia presenting as a rare covered exstrophy variant. J Urol. 1997 May. 157(5):1907-8. [Medline].

  69. Shiraishi K, Ishizu K, Takeuchi K, et al. Idiopathic clitoral hypertrophy. Urol Int. 1999. 62(3):174-6. [Medline].

  70. Skoog SJ, Belman AB. Aphallia: its classification and management. J Urol. 1989 Mar. 141(3):589-92. [Medline].

  71. Slawin KM, Nagler HM. Treatment of congenital penile curvature with penile torsion: a new twist. J Urol. 1992 Jan. 147(1):152-4. [Medline].

  72. So EP, Brock W, Kaplan GW. Ectopic labium and VATER association in a newborn. J Urol. 1980 Jul. 124(1):156-7. [Medline].

  73. Spears T, Franco I, Reda EF, Hernandez-Graulau J, Levitt SB. Accessory and ectopic scrotum with VATER association. Urology. 1992 Oct. 40(4):343-5. [Medline].

  74. Valerie E, Gilchrist BF, Frischer J, et al. Diagnosis and treatment of urethral prolapse in children. Urology. 1999 Dec. 54(6):1082-4. [Medline].

  75. Verga G, Avolio L. Agenesis of the scrotum: an extremely rare anomaly. J Urol. 1996 Oct. 156(4):1467. [Medline].

  76. Wiener JS, Marcelli M, Lamb DJ. Molecular determinants of sexual differentiation. World J Urol. 1996. 14(5):278-94. [Medline].

  77. Woodhouse CR, Kellett MJ. Anatomy of the penis and its deformities in exstrophy and epispadias. J Urol. 1984 Dec. 132(6):1122-4. [Medline].

  78. Wright JE. Congenital absence of the scrotum: case report and description of an original technique of construction of a scrotum. J Pediatr Surg. 1993 Feb. 28(2):264-6. [Medline].

 
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Agenesis of scrotum in 6-month-old child.
Agenesis of scrotum after scrotal reconstruction with preputial skin. Appearance of external genitalia is normal.
Webbed penis.
Labial adhesion in 3-year-old girl.
Isolated idiopathic clitoral hypertrophy.
Hydrocolpos in female neonate presenting as interlabial bulging cyst.
Hematometrocolpos resulting from imperforate hymen. Patient presents with bluish bulging membrane at introitus.
Hymenal polyp.
Vaginal polyp.
Meatal lesion in 5-year-old boy.
 
 
 
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