A variety of disorders that result in abnormal development of the fetal reproductive tract during pregnancy.

Causes, incidence, and risk factors

With the union of a sperm and an ovum, the embryo acquires the chromosomes that determine the sex of the fetus (XX=female; XY=male). During the first 6 weeks, the sex of the fetus is not distinguishable. At about 6 weeks gestation, ovaries develop in those with two X chromosomes, and testes develop in those with an X and Y chromosome. Development of the remaining genital organs occurs through the first 12 weeks of pregnancy. Disorders within the reproductive tract may arise because of abnormalities involving fetal chromosomes, specific genes, or hormone levels. As fetal development progresses through the pregnancy , problems may arise in the development of internal and/or external sexual organs. Since embryonic tissue is initially the same, chromosomal, genetic, or hormonal problems may cause both "male" and "female" appearing genital structures to develop in the same infant. Such infants are said to have ambiguous genitalia. This may make it difficult to determine if the infant is a boy or a girl.

Signs and tests

Careful physical examination of the infant before a gender is assigned is critical in the case of ambiguous genitalia. Chromosomal studies (a karyotype) and diagnostic tests for hormone imbalances may be performed. Ultrasound may be recommended to identify whether a uterus and cervix are present.

Treatment

Early recognition of developmental disorders is important, particularly for those that involve sexual ambiguity. Surgical treatment, indicated in some cases depending upon the abnormality, is usually recommended during the neonatal/infant period. In some instances, reconstruction may be deferred until after puberty. Surgical reconstruction is done to most closely associate physical characteristics with the gender role assigned to the individual child. This is best done with the expert advice of a geneticist or other specialist after chromosomal studies are completed. Hormonal supplementation may also be necessary depending on the condition present. Psycho-social support and/or counseling is required for the parents (and child when applicable) to address concerns and provide anticipatory guidance specific to the child's development.

Expectations (prognosis)

Optimal outcome is based upon early identification of the abnormalities (during the neonatal period), early chromosomal studies, expert advise, and early intervention with treatment aimed at addressing physical, emotional, and social issues.

Complications

Potential complications arise if a diagnosis is made late or in error. Children with apparent gender-specific external characteristics may be found, at puberty, to have internal sexual organ functions specific to the sex opposite from which they were raised.

Calling your health care provider

Call for an appointment with your health care provider if:

Prevention

Adequate prenatal nutrition and avoiding exposure to illness, medications, and alcohol are all important for adequate fetal growth and development. However, developmental disorders may still occur despite the mother's efforts to assure a healthy pregnancy . In some cases, genetic counseling and testing will identify developmental problems (especially chromosomal abnormalities) during pregnancy. Unfortunately, there is no current means of prevention for most of these disorders.