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HYPOSPADIAS

Hypospadias is one of the most common genital anomalies that pediatric urologists treat. The term hypospadias is derived from the Greek word hypo, meaning "under," and spadon, meaning "rent" or "fissure." Hypospadias is a congenital abnormality of the penis that is caused by incomplete development of the anterior urethra. The meatal location can be located anywhere on the ventral surface of the penis, from just below the tip of the glans to the perineum in the most severe cases. Chordee, ventral curvature of the penis, is frequently seen with hypospadias but sometimes is not recognized until an erection test is performed at the time of surgery. Penile torsion or rotation of the penis to the left or right can also be found with hypospadias.

Incidence

Hypospadias is found commonly in newborn boys and it is seen in approximately 8.2 per 1000 live births. Hypospadias may be inherited, although it is mostly an isolated finding. Bauer and colleagues surveyed family histories of hypospadias and found an 8% incidence of fathers of hypospadias patients had hypospadias, and 12% of siblings of hypospadias patients had hypospadias. The risk of another child having hypospadias increases to 26% when the 

Associated Anomalies

Undescended testes and inguinal hernias are the most common anomalies associated with hypospadias. Khuri and colleagues reviewed 1070 patients with hypospadias and found a 9.3% incidence of undescended testes and a 9.1% incidence of inguinal hernias. In the most severe forms of hypospadias, the incidence of undescended testes and inguinal hernias increased to 31.6% and 17.0%, respectively.

The incidence of upper urinary tract anomalies in isolated distal hypospadias is low, and screening children with sonography is unnecessary; however, in the presence of another organ system anomaly or very proximal hypospadias, sonography screening seems justified. A study by Shelton and Noe reconfirmed the low incidence of upper tract anomalies (3.9%) by excretory urography but also demonstrated a 10% incidence of vesicoureteral reflux 

Presentation and Effects of Hypospadias

Circumcision must be deferred when hypospadias is recognized, and circumcision should not be performed until a normal terminally located meatus is documented. If an infant has a normal-appearing meatus but with a "natural circumcised" look, the possibility of chordee should be considered, and the patient should be evaluated by a pediatric urologist before circumcision. If hypospadias is recognized, it is important that the pediatrician contact the specialist 

Treatment

Before 1980 hypospadias repair usually was performed after age 3 years because of technical considerations. It has been shown that genital surgery at this age could prove psychologically traumatic. Aberrant behavior, feelings of guilt, and gender identity confusion were noted commonly. Manley and Epstein demonstrated disturbing behavioral 

Surgical Issues

The surgical goals of hypospadias repair are to correct chordee if present, bring the urethral meatus up to the distal terminal position in a conically configured glans to provide an appropriately directed urinary stream, and achieve satisfactory cosmesis. In addition to these goals, the authors are constantly seeking ways to decrease patient morbidity and complication rates. 

The use of the foreskin to provide de-epithelialized coverage over the neourethral repair has greatly reduced the fistula rate in hypospadias repair. The development of the mucosal collar has added the final touch in the search for cosmetic normality. By incorporating the inner shiny preputial skin to create a natural ridge of mucosa-like tissue under the glans circumferentially, the penis can have a normal circumcised appearance. If a child with hypospadias is circumcised and has only a dorsal hooded prepuce, then the mucosal collar cannot be achieved. Similarly, extra tissue available for de-epithelialized pedicle coverage also is harder to find. Hence vigilance on the part of the pediatrician and obstetrician to prevent inappropriate circumcision is paramount. Finally, improvements, such as simpler

EXSTROPHY AND EPISPADIAS

Bladder exstrophy is a rare and calamitous congenital anomaly. This condition represents a wide spectrum of anomalies secondary to abnormal development of the cloacal membrane. Classic bladder exstrophy is found in

Initial Presentation

Because of the rarity of bladder exstrophy and epispadias, many primary care givers may never see a case in an entire career. Nonetheless, classic bladder exstrophy and cloacal exstrophy are easily recognizable at birth. Epispadias may be more difficult to recognize, especially if the defect is covered by foreskin. Similarly, female

Cloacal exstrophy presents with an impressive anatomic array of associated external defects , including the exstrophic cecum and terminal ileal segment separating the bladder into two exstrophic halves. An omphalocele may be present that may include a large portion of the bowel and other organs, including the liver and spleen. In large omphaloceles, abdominal wall closure is exceedingly difficult and may require staged surgery. The phallus in boys is completely and widely separated in half and is small. These findings make penile reconstruction very difficult, if not impossible. Therefore, female gender assignment is the recommendation in most boys born with cloacal exstrophy. Girls also can present with a separated clitoris, a bifid uterus, a duplicate vagina, or an exstrophic vagina.

Management

Upon recognizing a patient with exstrophy, either antenatally or immediately upon birth, referral to surgical specialists at tertiary centers who are experienced should be made without delay. Although bladder exstrophy is not usually a life-threatening entity, severe cloacal exstrophy may be. Surgical closure of bladder exstrophy is generally desirable in the first 72 hours of life . Early closure is easier because of pliability of the bony structures of the pelvis in young infants. The maternal hormone relaxin is thought to be responsible for this bony laxity. Pelvic osteotomy, which aids in pelvic and abdominal wall closure, may be avoided if closure is performed early. Before closure the bladder should be covered with a plastic covering, such as plastic wrap, to protect it from outside irritants. Petroleum jelly gauze or saline soaks are to be avoided because they may dry out and stick to the bladder mucosa. The umbilicus should be ligated with a suture and not a plastic clamp to avoid bladder mucosal trauma. Renal sonography and radionuclide scans are recommended before closure to assess the upper urinary tract anatomy and function.

The goals of successful bladder exstrophy and epispadias management are successful abdominal wall and bladder closure, satisfactory urinary continence, preservation of renal function, acceptable cosmesis, and appropriate sexual function. Multiple surgeries beyond the initial closure often are required. Complication rates, unfortunately, are high even in the most experienced hands. Thus, the families of exstrophy patients must be appropriately counseled. In addition, exstrophy support groups are available throughout the United States.

Cloacal exstrophy is a greater challenge than classic bladder exstrophy. If cloacal exstrophy is left untreated, the outcome is fatal. Surgical repair involves specialists from the departments of pediatric urology, pediatric surgery, pediatric orthopedics, and a host of ancillary pediatric specialists. Difficulties with management of the urinary tract, bowel and the short gut syndrome, and other organ system anomalies have made optimal results in these patients largely

AMBIGUOUS GENITALIA

Ambiguous genitalia newborn infants can be challenging and confusing for practitioners. To provide an appropriate plan of treatment, it is essential to have a general understanding of the different abnormalities and recognize problems that require immediate treatment and consultation. A brief discussion of the embryology, mechanisms leading to abnormal genitalia, and findings on physical examination and subsequent evaluation and treatment follows.

Classification and Clinical Findings

The simplest way of categorizing intersex disorders is by gonadal histology, as proposed by Allen.

FEMALE PSEUDOHERMAPHRODITISM

Typically, these patients have normal ovaries, internal female ductal systems, 46,XX karyotype, and virilization of the external genitalia. The external genitalia are masculinized to a variable degree ranging from mild clitoral enlargement to normal male phenotype with an empty scrotum. These findings are secondary to excess androgens from either exogenous sources, such as maternal ingestion during the first trimester, or endogenous production. In endogenous

MALE PSEUDOHERMAPHRODITISM

These genotypic males (46,XY) have two testes but an altered phenotype caused by abnormal cellular response to testosterone in 80% of cases and deficient testosterone production in the rest. In the more common cases of androgen insensitivity, the defective androgen receptors may result in external female genitalia with a blind-ending vagina and no mullerian or wolffian duct structures (complete testicular feminization) . The normal hypothalmic-pituitary feedback loop is impaired, resulting in elevated gonadotropins and excess production of

In many patients with dysgenetic testes, endocrine function is abnormal. Chromosomal abnormalities also are present, such as Klinefelter's syndrome (47,XXY) and 46,XX sex-reversal male. These patients are infertile, and the testes are at risk for malignancy. Bilateral vanishing testis syndrome, where there is intrauterine loss of the gonads, presents

MIXED GONADAL DYSGENESIS

Mixed gonadal dysgenesis is caused by chromosomal mosaicism (45,XO, 46,XY) and is one of the more common forms of ambiguous genitalia. Many of these patients seem to have the appearance of patients with classic Turner's syndrome. The internal findings including a streak gonad associated with an ipsilateral fallopian tube and uterus with a contralateral, dysgenetic testis. The streak and testis are both at risk for the malignant transformation. Often,

PURE GONADAL DYSGENESIS

In patients with pure gonadal dysgenesis, phenotypic girls may have a variable karyotype (46,XO, 46,XX, 46,XY), normal external female genitalia, and bilateral streak gonads. They often present at puberty with amenorrhea and

TRUE HERMAPHRODITISM

True hermaphroditism is an extremely rare form of intersex, accounting for fewer than 10% of all intersex disorders. Most of these patients are genotypic girls (46,XX) who have some Y-chromatin material. Ten percent are male genotype (46,XY) and the rest are either mosaic (46,XX/46,XY) or chimeras with elements from two zygotes. The gonadal tissue makeup is variable. They may have either an ovary on one side and testis on the other, or an ovary opposite an ovotestis. Bilateral ovotestes account for an additional 20% of true hermaphrodites, with 10% of

Evaluation and Management

Evaluation of infants with ambiguous genitalia requires a high index of suspicion that begins in the delivery room. It is imperative that members of the health-care team (i.e., obstetrics, pediatrics, nursing, and specialists including endocrinologists and pediatric urologists) work together and present a clear and uniform approach to the family. The hint of gender assignment in the delivery room, only to be changed later, can be disastrous and confusing to the The presence of symmetry on examination of the genitalia helps one consider male or female pseudohermaphroditism whereas asymmetry suggests mixed gonadal dysgenesis or true hermaphroditism. The location and presence of a single urogenital opening versus separate urethra and vaginal openings and normal scrotal or labial development versus a bifid scrotum may help establish a working diagnosis.

A rectal examination shortly after birth may identify a uterus enlarged from maternal hormones. Imaging modalities greatly enhance the ability of further understanding the specific abnormality. Sonography can be a useful tool for imaging fetal genitalia and determining internal structures, such as a uterus or ovary. In addition, the adrenal glands

VAGINAL ANOMALIES

Embryology

After the seventh week of gestation, the female reproductive tract arises from the paired mullerian ducts, which eventually fuse, canalize, and join the urogenital sinus. Further differentiation of these structures results in the formation of fallopian tubes and uterus. The upper vagina is formed from the mullerian duct, whereas the lower vagina develops from the urogenital sinus. The external female genitalia differentiate after 12 weeks' gestation. The genital tubercle

ABSENT VAGINA

Congenital vaginal agenesis, also known as the Mayer-Rokitansky syndrome, develops when the vaginal plate fails to canalize. These patients are normal genetic female patients (46,XX) and present at puberty with primary amenorrhea

VAGINAL OBSTRUCTION

Obstruction of the vagina most likely results from an incomplete formation of the vaginal canal during gestation. Hydrocolpos is defined as vaginal obstruction only, whereas hydrometrocolpos refers to blockage and distension of the vagina and uterus. Imperforate hymen, vaginal septum, or vaginal atresia may be among the more common

VAGINAL OR UTERINE DUPLICATION

Disruption of the fusion process of the mullerian structures can result in a variety of duplication anomalies. A result of partial fusion can lead to a bicornuate uterus with a single vagina or complete duplication with uterus didelphys and vaginal duplication. As discussed earlier, various portions of these duplicated segments may be obstructed. Many of 

Evaluation and Management

Detection of vaginal anomalies depends on the time of presentation, varying from an abdominal mass to bulging introitus in newborn infants to cyclical abdominal pain and amenorrhea at puberty. Obvious findings of an absent or blind-ending vagina lead to the diagnosis of vaginal agenesis. Rectal examination with bimanual palpation in older