Any of the following disorders may also present with a urinary tract infection. In addition to specific treatment, these girls also require investigation with a renal sonogram and VCUG to rule out additional causes for the urinary tract infection such as reflux.
1. Vaginal Bleeding
Occasionally withdrawal bleeding occurs shortly after birth due to the withdrawal of maternal estrogens. The condition usually ceases within 5 to 6 days but rarely vaginoscopy may be necessary to rule out a vaginal tumor. Bleeding at all other times mandates investigation.
Non-specific vulvovaginitis is probably the most common pediatric gynecological problem seen. This problem usually occurs in the 2-6 year old age group. Irritation is common by urine, stool, pinworms, bubble baths, direct inoculation of upper respiratory tract pathogens, candida and foreign bodies. The symptoms include local discomfort and irritation, possibly dysuria with local erythema and possibly a discharge. The urinalysis is often contaminated, so culture of a catheterized specimen may be required. Associated urinary tract infections are usually never caused by the irritation but from added problems such as reflux. If there is a foul odor with discharge, a foreign body should be suspected and most can be detected through a careful rectal examination. The possibility of sexual abuse should be considered and cultures taken to rule out specific infections such as gonorrhea. Most cases will respond to sitz baths and ointments such as Mycolog. Resistant cases may require a short course of estrogen cream. However, the incidence of recurrence is high.
3. Labial Adhesions
Adhesions of the labia minora are common and usually develop some time during the first or second year of life. Adhesions probably develop because of withdrawal of maternal estrogens, and without estrogenic stimulation the labia are thin and easily injured.
A small pinpoint opening just below the clitoris is characteristic. Furthermore, unlike in vaginal atresia, the urethral meatus is often covered.
Most labial adhesions will resolve spontaneously at adolescence, as endogenous estrogens cause thickening of the labial epithelium, keratinization and separation. However, a light application of an estrogen cream (Premarin 0.125 mg) gently massaged digitally directly into the midline of the adhesion twice a day for about two to three weeks usually causes spontaneous resolution of the problem. Persistent use of estrogen creams can result in pubarche. Manual lysis under general anesthesia is rarely required.
4. Urinary Leakage and Pooling
Rarely the mother may complain of constant urinary leakage or urine pooling in the introitus which may suggest an ectopic ureteral orifice. Usually, however, this condition is noted because of daytime wetness after continence should have developed. An ectopic ureter may present with a vaginal discharge. A carefully performed IVP is helpful, as an upper pole duplex system can be missed on a renal sonogram.
More commonly, however, urinary incontinence manifested as post-void dribbling is due to vaginal voiding because of urine being spilled into the vagina during voiding and then leaking out on mobilization. Alternatively, bladder instability can present as urge incontinence. This problem responds well to an antispasmodic. (See section on urinary frequency, urgency and urge incontinence.)
5. Vaginal Agenesis
This problem occurs when the mullerian ducts do not canalize in their most distal portion. The diagnosis is usually not made until puberty, when the patient presents with amenorrhea. The vaginal opening may be absent or shallow and the external genitalia are normal. The uterus is usually absent. Renal abnormalities such as unilateral renal agenesis are common in girls with vaginal agenesis. There are multiple techniques available for vaginal reconstruction, most of which are performed when the girl is older.
6. Transverse Vaginal Septum
This is an example of congenital vaginal obstruction. Others include: imperforate hymen and persistence of the urogenital sinus with complete distal vaginal occlusion.
The neonate may have an abdominal mass from the hydrocolpos/hydro-metrocolpos and/or urinary tract obstruction and bowel obstruction. A rectal exam will show that the mass is anterior to the rectum. In later life, a girl may present with amenorrhea, hematocolpos, and sometimes abdominal pain. Unlike in vaginal agenesis, these patients do have their internal genitalia.
Uroradiologic studies including pelvic sonography are important.
Treatment depends on the level of obstruction and whether or not a persistent urogenital sinus abnormality is present.
7. Vaginal Duplication (Mullerian duct fusion anomalies)
If the mullerian ducts fail to fuse, a uterus didelphis will result. This anomaly is often associated with cloaca exstrophy. A partial failure of fusion may cause septa either in the uterus or in the vagina. The septa in this particular anomaly are usually oriented anteroposteriorly. At times, one-half of the double vagina is imperforate and may present as a mass impinging on the other vagina. In the neonate this can present as a hydrocolpos or in the menarchial girl as hematocolpos. Ninety percent of girls with unilateral renal agenesis have some internal genital anomaly.
8. Urogenital Sinus Abnormalities
With this anomaly, only one orifice is present from which both the urethra and vagina emanate. This is probably the most common cause of hydrocolpos in those with urogenital sinus abnormalities not due to adrenogenital syndrome. Most of these girls present with an abdominal mass and possibly urinary and bowel obstruction. The anatomy is best defined by sonography, genitography and cystoscopy. Treatment requires surgery with separation of the urinary tract from the vagina. These children must be followed closely since poor bladder emptying is a common complication.
9. Persistent Cloaca
In this anomaly the rectum, proximal urethra and upper two-thirds of the vagina all empty into a common channel. This condition results from failure of the urorectal fold to reach the cloacal membrane. This is the counterpart of the supralevator imperforate anus in the male. About one-third of the girls will have hydrometrocolpos. Intestinal obstruction is always present. Urinary tract obstruction is often present, and two thirds of these children will have upper urinary tract abnormalities. Uterovaginal duplications are common. Vertebral abnormalities may occur also. An accurate anatomic diagnosis must be made with appropriate radiological studies. A transverse colostomy is important. A vesicostomy may also be necessary. Definitive urogynecological reconstructive surgery can be undertaken at a later date.
10. Genital Anomalies Associated with Specific Syndromes
Certain genital anomalies such as hypoplasia of the labia majora may be seen in specific genetic syndromes. Accurate diagnosis is important for patient management and family counseling.
11. Inter-labial Masses
An easy way to determine the origin of an inter-labial mass is to examine the area under appropriate lighting and evaluate the mass with Qtips while the labia majora are separated. In this way one may be able to determine whether the mass is of urethral or vaginal origin.
a. Urethral origin
(i) Urethral prolapse
This problem is more often seen in pre-pubertal black girls. They present with mild introital bleeding and the prolapse can be seen as a cherry red lesion at the urethral margin. The etiology of this disorder is unknown. Usually the prolapse will resolve when treated conservatively with sitz baths and/or catheterization. If significant, excision may be required.
(ii) Prolapsing ureterocele
Occasionally girls can present with prolapse of a ureterocele through the urethra and this may obstruct the bladder outlet and cause bilateral hydronephrosis. These children will require catheterization to relieve the hydronephrosis and usually excision of the upper renal segment. An IVP is diagnostic.
b. Vaginal Origin
(i) Vaginal introital cysts
These are usually noted at birth and include cysts of either Gartner’s duct or Skenes duct. They can present as large masses bulging from the introitus and can be differentiated from a prolapsed ectopic ureterocele with an IVP. These cysts can be followed conservatively for several months and will usually egress as the stimulus of maternal estrogens is withdrawn. If they do not resolve, they can be marsupialized.
(ii) Imperforate hymen
Imperforate hymen presents as a bulging membrane between the labia minora. There may be a mucocolpos behind an imperforate hymen because of vaginal secretions which have been produced in response to maternal estrogens. These secretions can result in a rather sizable abdominal mass and can rarely obstruct the urethra and rectum and rarely the venous return from the lower extremities. A considerable hydrocolpos can also cause obstructive uropathy. Treatment of the condition consists of incision of the imperforate hymen with drainage of the fluid. Imperforate hymen may also be familial.
(iii) Urogenital sarcoma
In girls they can rise from the bladder or uterus. Depending on the primary site girls may present with hematuria, vaginal bleeding, passage of cyst-like material, obstructive symptoms or urinary retention. Occasionally grape-like clusters may be seen protruding from the urethra or vagina. Although rhabdomyosarcoma does present in older children the majority are under 5 years of age. Girls often present with a bloody discharge and the diagnosis should not be confused with urethral prolapse or ectopic ureterocele.
(iv) Genital prolapse
This lesion is rare and usually occurs during the first or second week of life in girls with a myelomeningocele, or even more rarely in those who have undergone a difficult breach extraction. The condition can cause bilateral ureteral obstruction and hydronephrosis, and treatment consists of manual reduction of the prolapse and catheter drainage of the bladder after which the child’s legs are bound together. This position is maintained for 10-14 days, after which there is rare recurrence of this problem. Open reduction is rarely required.
Endometriosis resulting from retrograde menstruation leading to the reflux of viable endometrial cells into the peritoneal cavity can occur in girls with imperforate hymen, vaginal agenesis, or partial or complete uterine duplication.
13. Ovarian Cysts and Tumors
The formation of cysts or tumors in girls is not common but the diagnosis is important, since 30-50% of these are malignant.
The signs and symptoms depend not only on the size of the mass but also on whether it is benign or malignant, produces hormones, has effects on adjacent organs, ruptures, undergoes torsion or hemorrhages internally.
Ovarian tumors may produce urinary symptoms, abnormal bleeding, gastrointestinal symptoms, chronic abdominal pain or pelvic discomfort. If they undergo torsion (which is common) they may cause the acute onset of abdominal pain, nausea, vomiting and mild to moderate fever. If they involve the right ovary acute appendicitis may be simulated. If they are malignant, the most common sites of metastases are lung, liver, peritoneum and central nervous system. The hormone-producing tumors may cause precocious puberty with breast development, growth of pubic hair or vaginal bleeding.
Cystoscopy and uroradiological studies are important clinically. Hormonal studies may be important if indicated.
Small cysts are normal physiological findings in normal ovaries. Observation alone is all that is required for simple cysts. Follow-up pelvic sonography may be required.
Approximately half of these simple cysts are follicular cysts and half are lutein cysts. Some are infarcted and impossible to differentiate.
The differential diagnosis of cystic masses in the female fetus and newborn includes many entities with ovarian cysts being the most frequent among intra-peritoneal cystic masses. The differential includes ovarian cyst, intestinal duplication, intestinal obstruction, cystic meconium peritonitis, omental cyst, mesenteric cyst, lymphangioma, choledochal cyst, hydrometrocolpos, anterior meningomyelocele, urachal cyst, hydronephrosis, renal cyst and bladder distention.
All complex ovarian cysts, regardless of size, should be surgically removed because of possible torsion or neoplasm. Ovarian tissue should be preserved if possible, and sometimes enucleation is possible but at other times oophorectomy or salpingo-oophorectomy is necessary.
Uncertainty remains in the management of large simple cysts (greater than 4 cm). Because of the potential for ovarian torsion, cysts of this size or greater should probably be excised. Ovarian cysts that have twisted or ruptured have been reported to be a cause of neonatal ascites.
15. Benign Cystic Teratomas (Dermoid cysts)
This is the most common benign ovarian tumor in childhood and is composed of mature, well-differentiated tissue. Approximately 10% are bilateral. About 50% will have a calcification visible on an x-ray. The average age of patients with benign ovarian teratomas is 12 years. These teratomas tend to undergo torsion. Dermoid cysts are normally treated with oophorectomy.
Other benign ovarian tumors include cyst adenomas, fibromas, thecomas, para-ovarian cysts, infarcted unidentifiable tissue and lipid cell tumors.