Various developmental and congenital vulvovaginal abnormalities occur in the neonatal age group. Whereas an extensive discussion of these abnormalities is beyond the scope of this text, obstetrician-gynecologists will recognize that they must be prepared to deal with the parents and family when an infant is born with ambiguous genitalia. The etiology of these problems, and intersex disorders (now termed disorder of sex development [DSD]) that may be discovered in an older child can be complex (29). Chromosomal abnormalities, enzyme deficiencies (including 17-or 21-hydroxylase deficiency as causes of congenital adrenal hyperplasia), or prenatal masculinization of a female fetus resulting from maternal androgen-secreting ovarian tumors or, rarely, drug exposure can all result in genital abnormalities that are noted at birth. These abnormalities are described in Chapter 31
Ambiguous genitalia represent a social and potential medical urgency that is best handled by a team of specialists, which may include urologists, neonatologists, endocrinologists, and pediatric gynecologists (30). The first question parents ask after a baby is born “is it a boy or a girl?” In the case of ambiguous genitalia, the parents should be informed that the baby’s genitals are not fully developed and, therefore, a simple examination of the external genitalia cannot determine the actual sex. The parents should be told that data will be collected but that it may take several days or longer to determine the baby’s intended sex. In some situations, it may be best to state simply that the baby has some serious medical complications. The issues of sex assignment and appropriateness or timing of surgical therapy are controversial and should be managed by clinicians with extensive experience in this area (29,30).
Other genital abnormalities may be noted at birth, although few obstetricians or pediatricians carefully examine the external genitalia of female neonates. It is argued that careful inspection of the external genitalia of all female infants should be performed, with gentle probing of the introitus and anus to determine the patency of the hymen or a possible imperforate anus. If patency is in doubt, a rectal thermometer may be used to gently test the patency. It is suggested that this examination should be performed on all female infants in the delivery room (31,32). Various types of hymenal configurations in the newborn are described, ranging from imperforate to microperforate, to cribriform, to hymenal bands, and to hymens with central anterior, posterior, or eccentric orifices (33). An examination during the neonatal period would prevent the discovery of an imperforate hymen or vaginal septum after a young woman experiences periodic pelvic and abdominal pain with the development of a large hematometra or hematocolpos (34).
Congenital vulvar tumors may include strawberry hemangiomas, which are relatively superficial vascular lesions, and large cavernous hemangiomas. Treatment is controversial; many lesions will spontaneously regress. Some clinicians have used interferon-α therapy (35,36).