Approach to the Problem
Variations in the physical appearance of female genitalia encompass findings within the spectrum of normal, ambiguous genitalia, and abnormalities—congenital or acquired. Although most variations represent isolated external findings, some are associated with variations in the structure and/or function of other organ systems. In the category of acquired abnormalities, it is crucial for pediatric clinicians to have a heightened sense of awareness for accidental and inflicted genital trauma, including female genital mutilation (FGM). Identifying variations in the appearance of female genitalia depends on the physical characteristics, the stage of the child’s genital development, the presence of associated symptoms, ongoing parental involvement in the child’s genital care, and the primary care provider’s consistent inclusion of a careful genital examination at every health maintenance visit. Early detection may be imperative as with ambiguous genitalia, preferred as with imperforate hymen, or inconsequential as with normal hymenal variants. In addition, any complaints of abdominal pain, urinary symptoms, perineal/vaginal symptoms, change in bowel habits, and/or sexual maltreatment should prompt the clinician to carefully examine the perineum.
Key Points in the History
• A patient’s age and Tanner stage are key to establishing whether a particular external genital finding is within the limits of normal.
• Imperforate hymen or a vaginal web may present with complaints of abdominal or lower back pain, pain with defecation, diarrhea, extremity pain, urinary retention, and nausea and vomiting.
• There may be a genetic predisposition to imperforate hymen.
• Congenital adrenal hyperplasia (CAH) occurs with higher frequency in Ashkenazi Jewish, Hispanic, Slavic, and Italian populations.
• A family history of neonatal death may represent a missed diagnosis of CAH.
• A family history of ambiguous genitalia, consanguinity, infertility, or amenorrhea suggests a genetic basis for ambiguous genitalia.
• Maternal history of certain ovarian tumors, drug ingestion, or teratogen exposure during pregnancy may contribute to the development of ambiguous genitalia.
• Labial adhesions are common and may result from vulvar exposure to irritants, including residual feces between the labia, bubble baths, harsh soaps, detergents, accidental trauma as with vigorous cleaning, or nonaccidental trauma as with child sexual abuse and FGM.
• Inquire about genital trauma with history of recurrent urinary tract infections (UTIs), chronic vaginitis, dysuria, dysmenorrhea, or adolescent dyspareunia.
• A report from an obstetrician or a birth history may reveal FGM in a patient’s mother. Daughters of these mothers are at increased risk of FGM.
• Countries practicing FGM are found in Africa, Asia, and the Middle East. FGM practice continues in immigrant populations in countries including the United States.
• Subtle clues suggesting that a planned FGM may be upcoming include the following: upcoming cultural holidays, special ceremonies centered on the child, and requests for travel immunizations or prescriptions for antimalarial medications.
• Clues that FGM has recently occurred in a child include the following: genitourinary pain and bleeding, lengthy visits to the school bathroom, avoidance of physical activity (e.g., participation in physical education), and sudden change in behavior after a holiday.
Key Points in the Physical Examination
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