AUTHOR INFORMATION

Section 1 of 7

Authored by 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, European Society for Paediatric Urology, Società Italiana di Chirurgia Pediatrica, and Società Italiana di Urologia Pediatrica

Edited by M David Bomalaski, MD, FAAP, Chief of Medical Staff, 3rd Medical Group, Elmendorf Air Force Base; Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc; Harry P Koo, MD, Chairman of Urology Division and Director of Pediatric Urology, Virginia Commonwealth University; Professor of Surgery, VCU School of Medicine, Medical College of Virginia; Director of Urology, Children's Hospital of Richmond; Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine; and William J Cromie, MD, MBA, President and Chief Executive Officer, Department of Health Care, Capital District Physicians' Health Plan

Author's Email:	Luigi Avolio, MD
Editor's Email:	M David Bomalaski, MD, FAAP

eMedicine Journal, April 24 2006, VOLUME 7, Number 4

INTRODUCTION

Section 2 of 7

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 the eighth week of embryonic development, the 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 12-16 weeks of gestation and is the result of testicular hormones acting upon 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.

ANOMALIES IN MALES

Section 3 of 7

Penile agenesis

Congenital absence of the penis, or aphallia, is a rare anomaly caused by developmental failure of the genital tubercle. Approximate incidence is 1 in 30 million population. The phallus is completely absent, including the corpora cavernosa and corpus spongiosum. Usually, the scrotum is normal and the testes are undescended. 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. GI defects, such as caudal axis anomalies, also have been described. Reports indicate that aphallia may be associated with pregnancy complicated by poorly controlled maternal diabetes.

Infants with penile agenesis historically have undergone gender reassignment surgery, including bilateral orchiectomy with preservation of the scrotal skin for later vaginal reconstruction, labial construction, and urethral transposition. However, questions remain regarding in utero gender imprinting and the long-term psychological effects of gender conversion, and increasing controversy surrounds the timing, role, and the necessity of gender reassignment. 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.

Penile duplication

Duplication of the penis, or diphallia, is another rare anomaly resulting from incomplete fusion of the genital tubercle. Two distinct forms of penile duplication exist. The most common form is associated with bladder-exstrophy complex. The patient exhibits a bifid penis, which consists of 2 separated corpora cavernosa that are associated with 2 independent hemiglands. The second form, or true diphallia, is an extremely rare congenital condition. It 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 more than 2.5 standard deviations (SD) less than 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 usually is normal, but testes often are small and undescended. In a few cases, the corpora cavernosa are severely hypoplastic. Measurement (ie, stretched penile length) is very important in differentiation of 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 include hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, and idiopathic micropenis.

• In hypogonadotropic hypogonadism, secretion of gonadotropin-releasing hormone (GnRH) by the hypothalamus is impaired. This leads to decreased pituitary secretion of luteinizing hormone and follicle-stimulating hormone, depriving the testis of its stimulus to secrete testosterone. This pathogenesis exists in some hypothalamic dysfunctions, such as Kallmann syndrome or Prader-Willi syndrome.

• Micropenis secondary to hypergonadotropic hypogonadism is associated with conditions in which the testes are impaired functionally and unable to respond to hypothalamic-pituitary stimulation. An example of this condition is gonadal dysgenesis.

• In so-called idiopathic micropenis, endocrine analysis demonstrates a normal hypothalamic-pituitary-testicular axis.

Because micropenis is the result of numerous pathological 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, no general consensus exists regarding dosage, method of administration, timing, and duration of androgen treatment. The most common therapeutic regimen is testosterone enanthate 25-50 mg intramuscularly once a month for 3 months. Some physicians also use testosterone cream, but its absorption is variable and not easily controllable.

Debate also surrounds the timing of androgen stimulation. Recent 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. Replacement therapy at the age of puberty results in an adult-size penis (ie, within 2 SD of the mean). Furthermore, results of this study do not support the notion, which is 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 often is an isolated skin and dartos defect that can be remedied simply by freeing the penile shaft of its investing tissue. The rotation usually is 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. In some cases, however, 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 its accompanying thickened 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 2 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 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 normal penoscrotal relationship. The embryological sequence responsible for this defect remains unclear. Abnormal positioning of the genital tubercle in relation to the scrotal swellings during the critical fourth to fifth week of gestation may affect the inferomedial migration and fusion of the scrotal swellings. If the phallic tubercle also is 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.

Surgical correction is recommended for physiological 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 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.

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 also may derive from poor anchorage of penile skin to deep fascia or be acquired when the shaft of the penis is entrapped in scarred prepubic skin following an extreme circumcision or other trauma.

The literature describes numerous techniques for correction. 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.

Agenesis of the scrotum

Other than penoscrotal transposition, the scrotum generally is resistant to embryological abnormalities; therefore, congenital malformations are unusual. Congenital absence of the scrotum is an extremely rare anomaly, and only 4 cases (including a personal observation) have been reported in the literature. Upon examination in both reported cases, 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. Reports indicate only minor associated abnormalities, including slight bilateral clinodactyly in both fourth toes and bilateral nystagmus. 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 in both cases because it is richer than other tissues in androgen receptors. The procedures were uneventful, and the results were functionally and cosmetically satisfactory.

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. A recent review has identified 16 reported cases of a suprainguinal ectopic scrotum, 4 cases of a femoral ectopic scrotum, and 19 cases of accessory perineal scrotum. 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 often are accompanied by abnormalities of the upper urinary tract.

Accessory perineal scrotum also has 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 probably is 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 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 usually is not 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. 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. If splenogonadal fusion is suspected preoperatively, technetium Tc 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 usually is required to clarify the anatomy.

Patient Education: For excellent patient education resources, visit eMedicine's Men’s Health Center. Also, see eMedicine's patient education article Understanding the Male Anatomy.

ANOMALIES IN FEMALES

Section 4 of 7

Labial adhesion

Labial adhesion is an anomaly encountered frequently in children; 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 usually is asymptomatic, but, when the introitus is sealed completely, 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 (tid for 2 wk), which usually is not effective but does facilitate subsequent manual lysis. This procedure may be performed in an office setting with a probe or with 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 to 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) association. Clitoral duplication usually is seen in bladder exstrophy/epispadias complex in girls.

Clitoral hypertrophy

Hypertrophy of the clitoris is observed in cases of fetal exposure to androgens. The disorder usually is 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.

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: This uncommon entity, which occurs primarily 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. Anatomical 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 4 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 it 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, distension of the vagina) and hydrometrocolpos (ie, distention of the vagina and uterus). The obstruction frequently is caused by imperforate hymen or, less commonly, to transverse vaginal septum. Obstructing genital anomalies may present at birth with mucocolpos, but the obstructive anomaly often is asymptomatic and escapes detection. An imperforate hymen often is 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 associated with a mass in the lower abdominal quadrants, often inducing urinary tract obstruction.

  • Diagnosis is the most difficult aspect of hydrocolpos. In the past, the abdominal swelling occasionally was misinterpreted as an ovarian cyst, and the patient was subjected to laparotomy. Today, abdominal sonography is helpful in making the correct diagnosis, showing 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, correction 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 probably is 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). Treatment consists of a cruciate incision in the membrane with excision of the excess tags; usually, no further procedure is necessary.

• Sarcoma botryoides or rhabdomyosarcoma: This 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 evaluated completely with ultrasonography and CT scan. Other masses of the introitus include polyps of the urethra, hymen, and vagina. In these cases, surgical resection is mandatory to assess the histology and to exclude neoplastic lesions (especially rhabdomyosarcoma).

• Periurethral cyst: This rare lesion 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 embryological development can involve all 3 systems.

Despite the long tradition of embryological 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 2 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. 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 likely has 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 situation, 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 situation, 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 3 categories:

• Simple urogenital sinus in patients with normal anus and rectum and without intersex conditions

• Urogenital sinus in patients with intersex conditions

• 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. 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 anatomical picture, investigation of other anomalies (especially of the genital and urinary tracts), and identification of the mechanism of incontinence, if present. A genitogram, with retrograde injection of contrast material, is useful to delineate the anatomical aspects of the sinus and to clarify the relationship between the vagina and 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 3 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 defined clearly, surgery may be performed. Most surgeons perform a colostomy to relieve colon obstruction. Distension 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.

Patient Education: For excellent patient education resources, visit eMedicine's Women’s Health Center.

TEST QUESTIONS

Section 5 of 7

CME Question 1: Which of the following malformations is most commonly associated with aphallia?

A: Renal agenesis
B: Renal dysplasia
C: Cryptorchidism
D: Scrotal agenesis
E: Imperforate anus

The correct answer is C: More than 50% of patients with aphallia have associated genitourinary anomalies, the most common of which is cryptorchidism. Renal aplasia and dysplasia also are associated with aphallia, and gastrointestinal defects have been described.

CME Question 2: Splenogonadal fusion with continuous connection is characterized by which of the following?

A: Higher incidence in females
B: Association with limb defects
C: Recommendation of gonadectomy
D: Connection with accessory spleen
E: Lower incidence than discontinuous type

The correct answer is B: Association with limb defects, micrognathia, or other congenital malformations characterizes splenogonadal fusion, in which a continuous connection exists between gonad and normal spleen. The connection is continuous in 56% of reported cases.

Pearl Question 1 (T/F): A 4-year-old girl presents with a labial adhesion. Preliminary topical application of estrogen cream is indicated.

The correct answer is True: Labial adhesion is an anomaly that commonly is encountered in children, generally resulting from chronic inflammation of the vulva. Treatment consists of topical application of estrogen cream (tid for 2 wk), which usually is not effective but facilitates subsequent manual lysis. Topical application of estrogen or antibiotic cream after the procedure is important to avoid recurrence.

Pearl Question 2 (T/F): A neonate presents with micropenis. Gender conversion is recommended.

The correct answer is False: Micropenis is the result of numerous pathological conditions. Gender assignment generally is deferred until a physician determines if the penis can grow in response to testosterone administration. However, most patients can maintain male gender assessment with androgen stimulation.

Pearl Question 3 (T/F): Testosterone treatment of infants or children with micropenis secondary to fetal testosterone deficiency impairs penile growth in adolescence.

The correct answer is False: This notion, which was derived from research on rats, that testosterone treatment in infancy or childhood impairs penile growth in adolescence and compromises adult penile length has not been supported. Recent 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. Replacement therapy at puberty results in an adult-size penis within 2 standard deviations of the mean.

Pearl Question 4 (T/F): A 5-year-old boy presents with the following meatal lesion. Diagnosis is periurethral cyst and treatment consists of simple unroofing.

The correct answer is True: Periurethral cyst originating from a parameatal glans is the probable diagnosis. Treatment consists of simple unroofing or total excision of the lining to avoid recurrence.

PICTURES

Section 6 of 7

Caption: Picture 1. Agenesis of the scrotum in a 6-month-old child.
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Caption: Picture 2. Agenesis of the scrotum after scrotal reconstruction with preputial skin. Appearance of the external genitalia is normal.
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Caption: Picture 3. Webbed penis.
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Caption: Picture 4. Labial adhesion in a 3-year-old girl.
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Caption: Picture 5. Isolated idiopathic clitoral hypertrophy.
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Caption: Picture 6. Hydrocolpos in female neonate presenting as an interlabial bulging cyst.
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Caption: Picture 7. Hematometrocolpos resulting from imperforate hymen. The patient presents with a bluish bulging membrane at introitus.
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Caption: Picture 8. Hymenal polyp.
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Caption: Picture 9. Vaginal polyp.
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BIBLIOGRAPHY

Section 7 of 7

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