Congenital Anomalies and Benign Conditions of the Vulva and Vagina

Chapter 18 Congenital Anomalies and Benign Conditions of the Vulva and Vagina

Vulvovaginal problems are among the 10 leading disorders encountered by primary care clinicians. Definitive diagnosis may be delayed even though the woman may complain of pruritus and irritation because these problems are nonspecific and can be caused by a wide range of conditions. It is important to establish an accurate diagnosis before initiating therapy.

In this chapter, benign lesions of the vulva and vagina are described in the broad categories of congenital anomalies, benign neoplastic conditions, dermatologic changes, trauma, and functional disorders. Infectious conditions of the vulva and vagina are covered in Chapter 22.

Vulva

CONGENITAL ANOMALIES OF THE VULVA

Congenital anomalies of the external genitalia are quite variable. Ambiguous genitalia can present with clitoromegaly, bifid clitoris, or midline fusion of the labioscrotal folds. Clitoral agenesis is also possible as a result of failure of the genital tubercle to develop. Many of these defects are associated with other problems such as bladder extrophy. Incomplete development of the genitalia can result in a cloaca with no definite separation of the bladder and vagina. Hernial sacs may present in the newborn as vulvar masses. Similarly, any of the cell types normally found in the vulva can present at birth with overexuberant tissue development, such as a hemangioma or neuroma.

The problems of sexual identification posed by ambiguous genitalia are particularly important at birth. Caution, sensitivity, and the avoidance of hasty decisions and confusing terminology should be the rule when dealing with anxious parents and relatives. Careful physical examination, pelvic ultrasonography, hormonal studies, examination of a buccal smear for sex chromatin, karyotyping, and consultation with specialists may be necessary before the sex of rearing is assigned. In general, when there is any suboptimal development of penile or scrotal structures, the infant will be assigned a female gender because it is easier to reconstruct ambiguous genitalia to female structures than it is to build functional male genitalia. The assignment of sex will determine the need for any corrective surgery or hormonal manipulation and the manner in which the parents rear the child. These factors are all critical to the child’s proper gender identification.

Female pseudohermaphroditism is caused by masculinization occurring in utero, the infant presenting with ambiguous genitalia. Masculinization of the genetically female fetus occurs secondary to the endogenous hormonal milieu, as in congenital adrenal hyperplasia, or as a result of exogenous hormonal ingestion by the mother. Androgen-producing tumors of the ovary or adrenal gland, although rare, also cause this problem. Enlargement of the clitoris is the most conspicuous abnormality. Fusion of the labioscrotal folds also occurs in various degrees, producing a hypospadiac urethral meatus and a malpositioned vaginal orifice. Internal genital development is normal.

However, when the genetic sex is male (46 XY), there may be external phenotypic development along female lines. This occurs in the complete androgen insensitivity syndrome (testicular feminization), a genetic abnormality most commonly inherited as an X-linked recessive disorder. Because of a genetic deficiency of androgen receptors, the external genital development occurs along female lines. Testes are usually undescended and are located in the inguinal canals or the labial areas. After puberty, external genitalia are generally normal for females on examination, with the exception that the public hair is scanty or absent. In many cases, there is sufficient vaginal development to allow adequate coital activity. In utero, müllerian inhibiting substance is produced by the 46 XY fetus, which results in a lack of müllerian duct development and explains the absence of uterus or fallopian tubes. After puberty, the testes must be removed because malignant neoplastic transformation is possible. Ambiguous genitalia in an XY child can occur with partial androgen insensitivity (Figure 18-1).

FIGURE 18-1 Ambiguous genitalia in a child with an XY karyotype and partial androgen insensitivity.

(From McKay M: Vulvar manifestations of skin disorders. In Black M, McKay M, Braude P, et al [eds]: Obstetric and Gynecologic Dermatology, 2nd ed. Edinburgh, Mosby, 2003, p 121.)

Male pseudohermaphroditism may occur with varying degrees of virilization and müllerian development. This is most commonly the result of genetic mosaicism, such as 45 XO/46 XY. Many factors must be taken into account in the determination of gender role in these cases, and a full discussion of this problem is beyond the scope of this book. In a phenotypic female with a Y chromosome, localization and removal of the gonadal tissue and subsequent hormonal management are necessary (as with androgen insensitivity syndrome) because malignant neoplastic transformation may occur in these gonads.

In true hermaphroditism, which is rare, dual gonadal development occurs, either in the form of an ovotestis or as a separate ovary and testis. Although some of these cases represent mosaicism of the normal female and male chromosomal complement, the usual chromosomal pattern is 46 XX. Most true hermaphrodites have some degree of both female and male development internally and externally. The extent to which masculinization occurs depends on the relative amount of testicular tissue and its relative contribution of testosterone. Confirmation of the diagnosis requires laparotomy.

BENIGN CONDITIONS OF THE VULVA

Significant noninfectious conditions that may affect the vulva are covered in this section. Infectious conditions are covered in Chapter 22.

Structural and Benign Neoplastic Conditions

Young girls can develop labial agglutination, which is easily treated by estrogen cream and massage to separate the labia majora. Fox-Fordyce disease is characterized by a series of pruritic, raised, yellowish retention cysts (often inflamed) in the axilla, mons, or labia, which result from keratin-plugged apocrine glands.

Other cysts can also develop in the vulva, reflecting the variety of dermoid structures present. The most common are epidermal inclusion cysts and sebaceous cysts located below the epidermis, which are mobile, nontender, spherical, and slow growing. Sebaceous cysts are slightly firmer than other inclusion cysts; they are filled with dry caseous material. Most such inclusion cysts require no treatment if they are asymptomatic. The mucous glands of the vestibule and periurethral areas can become obstructed and form cystic structures. The milk line extends from the axilla to the vulva, and postpartum women can form galactoceles in the labia. Vulvar varicosities can enlarge, especially in pregnancy, to cause discomfort and pose possible risks for rupture or thrombosis.

Urethral caruncles appear as small, fleshy outgrowths of the distal edge of the urethra (Figure 18-2). In children, this results from spontaneous prolapse of the urethral epithelium. On the other hand, in postmenopausal women, the caruncle occurs when the hypoestrogenic vaginal epithelium contracts and everts the urethral epithelium.