Chapter 99: Gynecologic Disorders of Infancy, Childhood, and Adolescence

• Prepubescent patients typically require an external examination of the genitalia and specimen collection as indicated. A speculum examination is indicated for sexually active patients, or those with bleeding or a suspected foreign body.

• Congenital vaginal obstruction may present as an abdominal mass or bulge at the introitus.

• Treatment of asymptomatic labial adhesions is not indicated. For symptomatic relief estrogen cream is the first line of therapy.

• Urethral prolapse occurs most commonly in prepubertal African American females. Therapy with estrogen cream may reduce swelling of urethral tissue.

The female infant is under the influence of maternal estrogens for the first 6 months of life. Breast buds may be present, the labia majora appears full and there is thickening and enlargement of the labia minora.¹ Hymenal tissue stays thick, redundant, and elastic throughout infancy. The hymen surrounds the vaginal orifice and appears circumferential.² Estrogen levels fall within with first 6 months of life and continue to fall steadily until about 1.5 to 2 years of age.¹

Toddlers and younger school-age children (ages 2–6): As the estrogen levels reach their lowest levels between 3 and 9 years of age, the appearance of the female genitalia changes.² The clitoris is less prominent and the labia become flatter.¹ The hymen generally becomes thinner and may appear translucent, while also leaving a “crescentic” appearance as the hymen tissue recedes from the anterior vaginal orifice. There is a high degree of variability in timing of these changes among children. The vaginal pH during this time is alkaline.²

Older school-age children (ages 7–12): The labia continue to develop and the hymen thickens, while the vagina elongates to about 8 cm. The vaginal mucosa thickens and the vaginal pH becomes acidic. A thin white vaginal discharge (physiologic leucorrhea) may be noted.^1,2

Adolescents (ages 12–21): The labia are well developed and the hymen is thick with a pale pink coloration. The vagina is typically an adult length at 10 to 11 cm, typically with an acidic pH. Physiologic leucorrhea may be noted depending on the timing of the menstrual cycle.^1,2

A successful examination of the premenarchal child requires adequate lighting and an environment in which the child feels relaxed and as comfortable as possible. Address any concerns or fears the child may have, especially in cases of sexual assault. Assess the stage of sexual development by examining the breasts and looking for any indication of puberty^3,4 (Table 99-1). Utilize a standard speculum examination for patients who are sexually active or bleeding from trauma. In prepubertal girls, only external visualization may be needed. The frog-leg position allows easy visualization of the genitalia and may be performed with the child in the mother's lap. An alternative position is the knee–chest position in which the child lies with her knees pulled to her chest on the examination table, supporting her weight on her knees, with her buttock elevated.² The vaginal introitus can be visualized by grasping the labia with the thumb and forefinger and gently pulling the labia toward the examiner.² (Fig. 99-1,² examination techniques) A rectal examination may be useful if an abdominal mass is suspected.

An internal examination is indicated if foreign body is suspected, vaginal bleeding or discharge, or suspected tumor. In prepubertal girls, it may be necessary to perform an internal examination under general anesthesia using various instruments such as a vaginoscope, cystoscope, hysteroscope, or endoscope with irrigating properties.¹

Specimen collection from the vaginal introitus with a swab moistened with normal saline should be sent for Gram stain, culture, and wet mount preparation if a vaginal discharge is present. In a very young or uncooperative child, a large bore intravenous catheter can be used to flush 1 to 2 mL of saline for further studies.⁴ After initial fluid collection, irrigating the vagina with larger amounts of saline may wash out small foreign bodies.¹ Specific specimens should be collected for suspected sexual abuse (e.g., cultures of Neisseria gonorrhoeae and Chlamydia trachomatis, and slide preparations for Trichomonas). (See Chapter 143 on sexual abuse.)

The newborn girl is affected by circulating maternal estrogens; thus, it is common to see whitish, clear mucoid, or occasionally bloody discharge from the vagina. Transient discharge should subside after approximately 2 weeks as maternal estrogen levels in the neonate decline, so only reassurance is required. Initiate an evaluation if discharge or bleeding persists beyond this time period. (See Chapter 103, Vaginitis.) Disorders of infancy and childhood are listed below. In addition, Table 99-2 describes causes of prepubertal vaginal bleeding.

Congenital Vaginal Obstruction

The two most common types are due to an imperforate hymen or a transverse vaginal septum, also known as vaginal atresia. A transverse vaginal septum is thought to result from failure in canalization of the vaginal plate at various levels. An imperforate hymen is a remnant of the urogenital membrane. Other lesions, such as cloacal malformation and persistent urogenital sinus, result from an interruption of the normal differentiation of the hindgut. The vaginal plate and sinovaginal bulbs subsequently do not develop and the upper vagina and rectum enter the urogenital sinus.^5,6 These lesions sometimes lead to functional obstruction of normal mucoid secretions and cause hydrocolpos, distension of the vagina (colpos), or hydrometrocolpos, distension of the uterus (metro) and vagina.^7,8

Congenital vaginal obstruction can present at variable times during infancy and childhood. Hydrocolpos in the newborn period may present as an abdominal mass or a bulging mass at the introitus.^2,7,8 On rare occasions, vaginal obstruction can lead to recurrent urinary tract infections, obstructive uropathy, and renal failure secondary to compression by the mass. Rarely, an abscess can occur and requires emergent drainage.^7,8 An undiagnosed imperforate hymen may present at puberty as primary amenorrhea and intermittent lower abdominal pain that worsens every month. On physical examination, a bluish bulge, also known as hematocolpos, may be seen at the introitus.

Treatment of vaginal atresia and imperforate hymen is surgical correction. Surgical drainage of hydrocolpos or hydrometrocolpos is necessary to relieve the obstruction, but not imperative in the newborn period as it is best to delay definitive reconstruction until the adolescent years.^7,8

Labial Adhesions

Labial adhesions, also known as labial agglutination, usually begin posteriorly and extend superiorly toward the clitoris, often leaving a small opening anteriorly. There is usually a thin white line or demarcation that represents the fused portion.¹ The prevalence is 1.8% to 3.3% in 1- to 6-year age group, with a peak incidence in the 13- to 23-month age group.^9,10 A suggested etiology is an estrogen deficiency in the prepubertal period and inflammation that results in thinning of the superficial mucosal layers.¹

The clinical presentation is often related to a parent noting that the vaginal area appears to be “closing” or found during routine physical examination by a clinician. Congenital absence of the vagina or imperforate hymen can be distinguished from adhesions by the thin raphe or vertical line connecting labial adhesions.^9,10

Most cases of labial adhesions are self-resolving warranting reassurance, especially in asymptomatic cases. With symptoms such as pain, inflammation, or urinary tract infections, first-line therapy is topical estrogen cream applied to the fine thin raphe twice a day for 2 to 8 weeks. Assess for breast budding as some local cream application may result in peripheral stimulation. Alternatively, a topical steroid cream, such as betamethasone has led to equivalent results.⁹ Repeat treatment for a recurrence.¹ Surgical separation in the operating room or office may be indicated if symptoms persist, recurrent urinary tract infections occur or an inability to void due to complete agglutination.^9,10 Manual separation is not recommended because of the risk of recurrence and potential for psychological trauma with repetitive manual separation.^9,10

Urethral Prolapse

Urethral prolapse is protrusion of urethral mucosa through the urethral meatus. Although uncommon, it tends to occur more often in prepubescent African Americans girls.^11,12

On examination, the prepubertal vaginal orifice may be obscured and a ring of congested and edematous urethral tissue may be seen at the introitus. The urethral mucosa typically appears red or purple, and some areas may appear black and necrotic. Some children may present with dysuria or vaginal bleeding.^2,11,12

Treatment is with topical estrogen cream applied to the area twice daily until resolution, while monitoring for signs of peripheral estrogen stimulation. Resolution may occur in one to several weeks. A sitz bath may also be helpful. If the child is constipated, recommend additional fiber in the diet and stool softeners to prevent straining with defecation. Other treatments include topical steroid or antibiotic cream. Oral antibiotics may be considered for evidence of superimposed infection. Medical treatment failures or suspicion for urethral incarceration warrants surgical excision of the redundant tissue.^11,12

Precocious Puberty

Precocious puberty is defined as the onset of secondary sexual characteristics that is greater than 2.5 standard deviations below the mean age of pubertal onset for the population. In a study of more than 17,000 girls aged 3 to 12 years by the Pediatric Researchers in Office Setting (PROS) investigators noted that the normal age for the onset of puberty is younger than previously believed and varies with regard to race (e.g., African American girls can have an onset of puberty as early as 6 years and Caucasian girls at the age of 7).^3,4 Most physicians, however, still use an 8-year age range as the cut-off pending the outcome of other prospective studies.¹³

Precocious puberty is often described as either gonadotropin-dependent precocious puberty (GDPP) or gonadotropin-independent precocious puberty (GIPP) (Fig. 99-2). GDPP occurs secondary to activation of the hypothalamic–pituitary–gonadal axis, and GIPP occurs secondary to steroid production, regardless of gonadotropin secretion. Some young girls may present with isolated menarche, thelarche, or pubarche as a variant of normal puberty.¹³ Clinical symptoms will relate to the particular disease process. For example, girls with GDPP, also known as central precocious puberty, may present with pubertal changes such as vaginal bleeding, breast and pubic hair growth, acne as well as neurologic abnormalities such as headaches, seizures, focal deficits, polyuria, polydipsia, vision changes, or galactorrhea.

Girls with GIPP, or peripheral precocious puberty, may present with thyroid and abdominal or ovarian masses. There may be a history of estrogen cream use, which has propagated precocious development. Skin findings such as acne, or café au lait spots can be consistent with genetic conditions, such as McCune–Albright syndrome.¹³

In the ED setting, determine whether a disease process requires immediate attention warranting referral to a pediatrician or a pediatric endocrinologist. Initiate an evaluation if there is a suspicion for trauma, malignant neoplasm, or CNS abnormality. If history reveals access to or use of hormonal medications, stopping the medications should cause symptom resolution.¹³

Ovarian Cysts

Typically, ovarian cysts result from the mini-pubertal period that neonates experience in the first 6 months of life and most resolve spontaneously. Cysts of any size in the neonatal period should be closely observed due to risk of ovarian torsion.¹⁴ Beyond 6 months of age, cysts may also occur and should be followed to resolution.¹⁵ Although ultrasounds are very sensitive, occasionally they cannot distinguish between duplication cysts of the intestine, mega ureter, or mullerian anomaly. Cysts may have an appearance that is simple (typically functional and self-resolving) or complex (e.g., sign of an old hemorrhagic cyst or of an ovarian tumor). The most common tumors presenting in this age group are germ cell tumors.

In general, asymptomatic simple cysts, which are resolving, may be observed. Surgical management is indicated for any type of cyst, which persists or increases in size, and for complex cysts if tumor is suspected. Immediate surgical evaluation is necessary for symptoms of torsion as even small cysts may result in ovarian torsion. Hormone-producing cysts should be considered in girls with signs of precocious puberty.^14–17

The adolescent patient requires a thorough sexual and menstrual history and consideration for the possibility of pregnancy or sexually transmitted infections. Obtain the history without the parent present and maintain confidentiality. Obtain a pregnancy test on any adolescent with a positive history for sexual activity and complaints of abdominal pain, vaginal discharge, pruritus, or dysuria. A standard speculum and bimanual examination is necessary for suspicion of a sexually transmitted infection. Explain the procedure and provide reassurance to reduce the anxiety of an otherwise uncomfortable examination. (See also Chapter 102 on abnormal uterine bleeding.)

Ovarian Torsion

About 15% of ovarian torsion occurs during childhood; although more common in adolescents, they can occur in the prepubertal girl with similar presenting signs and symptoms as well as management strategies as in the adolescent female.¹⁸ The ovary twists on its pedicle, which is made up of lymphatic and vascular structures that form an axis between the abdominal wall and uterus. Infarction ensues when the arterial supply to the ovary is compromised; risk factors include an enlarged ovary or a lesion on the ovary.^18,19

Patients may present with abdominal pain, nausea, vomiting, and fever. They may have symptoms that are similar to other pelvic and abdominal disease processes such as pelvic inflammatory disease, ruptured ovarian cyst, ectopic pregnancy, appendicitis, and gastroenteritis. Torsion occurs more commonly on the right than the left, leading to the hypothesis that the sigmoid colon has a protective effect on the left side.^18,19

The diagnosis of ovarian torsion can be made by evidence of an abnormal ovary on ultrasound, with or without Doppler flow studies. Normal ovarian blood flow demonstrated on ultrasound does not exclude the diagnosis. If diagnosis is not made by ultrasound, laparoscopy or laparotomy should be performed in the setting of high clinical suspicion.^18,19 Early diagnosis is important because salvage of the ovary depends on the duration of symptoms.¹⁹ The salvage rate in a pediatric cohort within 8 hours of symptoms was described as 40% and within 24 hours of symptoms as 33%; those operated beyond 24 hours had no salvageable ovaries.²⁰ Thus, the timing of diagnosis and operative management are critical for prognosis.^19,20

Ovarian Cysts

Ovarian cysts are common in adolescents. All menstruating girls will have functional follicle development each month.¹⁶ These cysts range from 2 to 2.5cm in size once mature and just prior to ovulation. Although typically asymptomatic, they may result in pain in the process of ovulation during midcycle, known as Mittelschmerz. Although the majority of cases are self-limiting, NSAIDS are helpful for the related inflammation. In patients whose cycles are irregular, functional cysts may fail to ovulate monthly and enlarge with resultant pain. If they eventually rupture, pain results from serous or hemorrhagic fluid irritation within the peritoneum. Tiny cysts associated with a common condition among adolescents such as polycystic ovarian syndrome are typically smaller than functional follicle size and do not result in pain. Neoplastic nonfunctional ovarian cysts also occur, are typically benign and may exhibit simple or complex features on ultrasound. Benign varieties include teratomas, serous or mucinous cystadenomas. Tumor markers (e.g., AFP, serum HCG, LDH, and CA125) may be helpful to rule out malignancy.

Physiologic cysts may be easily distinguished from neoplastic entities as these may result in a brief pain episode, responsive to NSAIDs or time. When cysts are present over several months or enlarge over a few months, suspect a neoplastic cyst. When cysts become larger than 6 cm, a risk for torsion is present.^16,17 In cases where patients are continually symptomatic each month with functional cysts, a trial of combined hormones may help current cysts stabilize and prevent new ones from forming. Rarely, hemorrhagic cysts can result in continued expansion from active bleeding within the cyst wall and resultant drop in hemoglobin that may require surgical intervention. This should raise the suspicion for a coagulation problem. Benign neoplastic cysts will ultimately require surgical intervention as they are unlikely to respond to hormonal medications. Immediate surgical intervention with ovarian cystectomy is indicated in the patient presenting with acute abdominal pain.^16,17

Bartholin's and Vulvar Abcesses

Bartholin glands are located on the labia minora at the 4-O'clock and 8-O'clock position of the inner vestibule that drain into a duct that is about 2.5 cm long. Bartholin gland cysts are usually asymptomatic, but may become enlarged or infected if the duct becomes obstructed. Other vulvar abscesses may involve the labia majora, the clitoral hood or any other hair-bearing region. These abscesses are typically caused by gram positive bacteria such as Streptococcus or Staphylococcus.²¹ Patients may complain of pain when walking or sitting, dyspareunia, or vulvar pain. Normally the gland cannot be palpated, but if it is enlarged, the patient may notice a new bulge or it may be discovered during the gynecologic examination.²¹

Incision and drainage of the Bartholin-type abscess often results in recurrence. Definitive treatment involves treatment with a Word catheter; a catheter with a rubber tip is inserted into the incision and inflated with water or jelly while the loose end can be inserted into the vagina. The catheter remains in the drained cyst for about 4 weeks to promote complete epithelialization. An alternative definitive treatment is marsupialization. This involves incision and removal of a portion of the cyst and a part of the vestibular wall with approximation of the remaining vestibular skin with the adjacent cyst wall with sutures to create a new tract that will epithelialize and form a new duct orifice. A routine vulvar abscess may be drained with simple incision and drainage in the ED. If the abscess is suspected to be complicated and loculated, exploration in the operating room may be necessary for adequate debridement.²¹

Acute Pelvic Pain

There are a variety of causes that include gastrointestinal, urological, and gynecological reasons for pelvic pain in adolescents. Mittelschmerz pain occurs during mid-menstrual cycle when a follicle ruptures during ovulation. Minor bleeding from the follicle may lead to irritation of the peritoneum and subsequently cause lower abdominal pain. This pain should usually last a few hours or less.³ Ovarian cysts are usually benign and painless, but a ruptured ovarian cyst may cause lower abdominal pain secondary to hemoperitoneum. This pain can be severe and confused with appendicitis. Peritoneal irritation can also be caused by expansion of a cyst or a hemorrhagic corpus luteum cyst.³ Other causes of pelvic pain include ectopic pregnancy, ovarian torsion, imperforate hymen, endometriosis, pelvic inflammatory disease, urinary tract infection, urolithiasis, and dysmenorrhea.

The evaluation of pelvic pain in the adolescent patient should begin with a pregnancy test. Obtain a urinalysis to identify urinary tract infection or urolithiasis. A CBC may provide evidence of anemia or bleeding, a basic metabolic profile can assess renal function, and abdominal labs may include tests for hepatitis and pancreatitis. If there is a history of fever, sexual activity, or vaginal discharge, conduct a pelvic examination to identify STDs and pelvic inflammatory disease (PID). Obtain imaging studies of the abdomen and pelvis if appendicitis, ovarian torsion, tubo-ovarian abscess, or urolithiasis is likely²² (Fig. 99-3).

Vaginitis

Adolescents presenting with an erythematous rash, white curdy discharge and pruritis most likely have yeast infection. Immunocompromised states or certain comorbid conditions such as diabetes mellitus will also place some patients at risk for this type of vaginitis. Bacterial infections, such as bacterial vaginosis caused by Gardnerella vaginalis, can result in copious white or clear vaginal discharge with fishy odor. A saline wet prep usually confirms the presence of clue cells, and in the presence of KOH, a positive whiff may be established. This is a common infection that may be a result of change in body hygiene products or douching, but is not generally considered sexually transmitted. (See Chapter 89 Sexually Transmitted Infections.) Physiologic discharge requires only reassurance.⁵ For patients with evidence for candidiasis, topical antifungals or oral antifungals are necessary. For patients with bacterial vaginosis, metronidazole 500 mg po BID is the first-line treatment for 7 days. (See Chapter 103, Vaginitis.)

Accidental and nonaccidental trauma is seen in both the prepubertal and adolescent female.²³ Although most cases are accidental straddle injuries (e.g., bicycle fall, fall on a diving board), the clinician should consider the possibility of sexual abuse. Establish whether children presenting with genital injury had a witnessed or unwitnessed event. For children who are developmentally verbal, ask about the event from the child directly in her own words in a conversation separate from the parent or guardian. Particularly for adolescents, inquire about the use of illicit drugs, alcohol, or other concerns regarding the situation.

In general, accidental traumas tend to present as lateralized injuries. These injuries tend to be related to how the child may have fallen on the bony structures of the pelvis.^23,24 This may manifest as ecchymosis on one or both labia majora, as hematoma formation, or as trauma to additional structures on the perineum. Large hematomas may occasionally obstruct the urethra leading to difficulty with voiding.^23,24 The provider should be more suspicious of sexual abuse with more central and symmetrical appearing lesions. (See Chapter 143 for sexual abuse and Chapter 27 for genitourinary trauma.) The evaluation of genital trauma in adolescents is challenging because of the estrogenized and elastic nature of tissue at the onset of puberty, and the more redundant appearance of hymenal tissue with normal variations in mucosal shapes.²⁴

Conservative management (hygiene instructions and over the counter anti-inflammatory medications) may be all that is necessary for an accidental straddle injury with ecchymosis alone. For a stable hematoma, ensure the urethra is not traumatized, recommend sitz baths and encourage wound healing with a topical antibacterial creams or topical estrogen cream. Application of ice packs and pain medications may be necessary. These are typically self-resolving due to tamponade by surrounding tissues.²³ If there are concerns about inability to void, a Foley catheter should be inserted. With a rapidly expanding hematoma and decreasing hemoglobin levels, or an actively bleeding laceration or laceration that distorts the anatomy, immediate surgical intervention is necessary. More serious abuse related injuries may require surgical intervention and assault evaluation simultaneously in the operating room.^23,24 If abuse is suspected, contact child protective services (CPS).