Genital anomalies in childhood

Most congenital anomalies of the perineum, vulva, and vagina remain asymptomatic until menarche or are discovered when the premenarchal child is examined. A survey of 50,882 children revealed that one child in every 8,300 possessed a major malformation of the external female genitalia, while of 2,300 infants, one girl demonstrated a major defect. Early detection of a genital anomaly is important. The sudden diagnosis or shock of discovery does not always allow the patents or the patient to adjust to the congenital defect's negative impact. Psychological counseling may be needed for the patient and her family prior to a reconstructive procedure. In infancy, a clitoral deformity should be corrected to conform with the sex of rearing. At puberty, vaginal obstruction should be properly relieved so as to limit retrograde menstruation and preserve future fertility. The purpose of this article is to summarize the clinical management of anomalies of the external genitalia and vagina relevant to pediatrics and gynecology. Excluded are the cloacal abnormalities, major cervical and uterine malformations, and sexual ambiguity. The embryology and development of the genital tract has been summarized elsewhere in this symposium.