Developmental disorders of the female reproductive tract

Definition 

Developmental disorders of the female reproductive tract are abnormalities that occur in the reproductive organs of a female fetus.

Causes, incidence, and risk factors 

With the union of a sperm and an ovum (egg), the embryo acquires chromosomes that determine the sex of the fetus (XX=female, XY=male). During the first six weeks, the sex of the fetus is not distinguishable.

At about six weeks gestation, ovaries develop in those with two X chromosomes, and testes develop in those with an X and a Y chromosome. Development of the remaining genital organs occurs through the first 12 weeks of pregnancy.

Abnormalities may be caused by genetic defects and/or hormonal problems in the uterus. If a boy’s testes do not start producing testosterone when they should or if there are other abnormalities, the child may not develop a penis and may appear to be a girl even though the child has XY chromosomes. There may be other abnormalities of the female reproductive system, such as a vagina but no uterus, in such cases.

In other cases, an XX girl may be exposed to high levels of testosterone in the womb, which may cause the development of an enlarged clitoris or a small penis.

In another type of defect of the female reproductive tract, there is an extra X or Y chromosome, which causes similar problems in sexual differentiation. Such children may have genitalia that are “in between” or resemble parts of those of either sex.

Such infants are said to have ambiguous genitalia, which may make it difficult to determine at birth whether the child is a boy or a girl.

Symptoms 

Symptoms may vary according to the abnormality present. For example, with inadequate ovary development (ovarian agenesis) breast development and menses will not occur because of the lack of estrogen.

Signs and tests 

Careful physical examination of the infant before a gender is assigned is critical in the case of ambiguous genitalia.

Chromosomal studies (karyotyping) 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.

Sometimes surgery is recommended during infancy. Surgical reconstruction is done to associate physical characteristics with the gender assigned to the child. In some instances, reconstruction may be deferred until after puberty.

Surgical reconstruction should not be undertaken lightly and should not be done without genetic testing to determine the chromosomal sex of the child.

Parents of an affected child should seek counseling with a geneticist. Parents should also seek advice from adults who had similar defects, whether they had surgery or not, regarding their feelings about their treatment..

In the past, researchers believed that assigning a female gender identity should be routine for individuals with ambiguous genitalia, because it is easier to construct a vagina than it is to enlarge a tiny penis. However, many males who underwent this procedure felt that being socialized as a girl did not change their gender identity.

Psycho-social support and/or counseling is required for the parents (and child, when applicable) to address concerns and provide guidance specific to the child’s development.

Expectations (prognosis) 

Optimal outcome is based upon early identification of the abnormalities, 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 child’s health care provider if the following symptoms occur:

     
  • Abnormal, observable gynecological structures are present  
  • Expected female characteristics such as breasts do not develop in girls at puberty  
  • Expected menstrual cycle functions do not develop at puberty  
  • Unexpected male characteristics develop in girls  
  • Female characteristics and/or functions develop in boys at puberty

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.

Johns Hopkins patient information

Last revised: December 5, 2012
by David A. Scott, M.D.

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