Disorders of Sexual Differentiation

Ambiguous genitalia is a condition usually discovered at birth, in which an infant’s genitals may not appear to be clearly male or female. In ambiguous genitalia, a baby’s genitals may not be well formed, or the baby may have characteristics of both sexes. Ambiguous genitalia can be very difficult for families.

Often times, pediatric urologists are first to evaluate newborns whose outside genitals are abnormal. Sometimes the baby’s sex cannot be determined from the appearance of the organs. Testing and /or surgery may be needed to help a family decide which gender to raise the baby. This can be a very emotional time for families. Other specialists such as geneticists and endocrinologists are frequently needed to make recommendations to families when determining the child’s sex.

What causes ambiguous genitalia?

Many different genes influence fetal sex development. Mutations (defects) in these genes can lead to disorders of sex development. Chromosomal abnormalities, such as a missing sex chromosome or an extra one, can also cause ambiguous genitalia. In some cases, disorders of sex development seem to happen by chance.

Causes of ambiguous genitalia in a genetic female may include:

  1. Congenital adrenal hyperplasia (CAH) – certain forms of this genetic condition cause the adrenal glands to make excess male hormones (androgens). This is the most common cause of disorders of sex development.
  2. Prenatal exposure to substances with male hormone activity – certain drugs, including progesterone (taken in the early stages of pregnancy to stop bleeding) and anabolic steroids, can cause developing female genitals to become more masculine.
  3. Tumors – rarely, a tumor in the fetus or the mother can produce male hormones.

Causes of ambiguous genitalia in a genetic male may include:

  1. Impaired testicle development – this may be due to genetic abnormalities or unknown causes.
  2. Congenital adrenal hyperplasia (CAH) – certain forms of this genetic condition can impair production of male hormones.
  3. Androgen insensitivity syndrome – in this condition, developing genital tissues don’t respond normally to male hormones.
  4. Abnormalities with testes or testosterone – various abnormalities can interfere with the testes’ activity. This may include structural problems with the testes, problems with production of the male hormone testosterone or problems with cellular receptors that respond to testosterone.
  5. 5-alpha-reductase deficiency – this is an enzyme defect that impairs normal male hormone production.
  6. Prenatal exposure to substances with female hormone activity – if a woman continues taking birth control pills during pregnancy, the fetus may be exposed to the female hormone estrogen.

There are a number of different causes of ambiguous genitalia, with the most common described below. The cause, in many cases, is not known and the disorder appears to occur by chance.

How is the gender determined in a child with ambiguous genitalia?

When a child’s genitalia appear ambiguous at birth, your child’s doctor will conduct both a medical history of the family and a physical examination of your child’s genitalia. To determine the sex, your child’s doctor and medical team will consider the following:

  1. A pelvic ultrasound to check for the presence of female reproductive organs
  2. A genitourethrogram to look at the urethra and vagina if present
  3. A chromosomal analysis (to help determine genetic sex: XX or XY)
  4. Size and potential for growth of a penis present in a male pseudohermaphrodite
  5. Ability of an internal reproductive organ to produce appropriate sex hormones for the gender “assigned” to the child
  6. Risk of future health conditions (i.e., cancer) that may develop in the original reproductive organs later in life

Treatment for ambiguous genitalia

Treatment for ambiguous genitalia depends of the type of the disorder, but normally includes surgery to remove or create reproductive organs appropriate for the gender of the child. Hormone replacement therapy (HRT) may also be included in treatment for ambiguous genitalia.

In some conditions causing ambiguous genitalia, there is an increased risk for tumors in the gonads. In these cases the gonads may need to be removed.
Families of babies born with ambiguous genitalia may need long-term support to help with ongoing issues regarding gender and sexuality. Making a correct determination of gender is both important for treatment purposes, as well as the emotional well-being of the child.

Some children born with ambiguous genitalia may have normal internal reproductive organs that allow them to live normal, fertile lives. However, others may experience reduced or absent fertility (difficulty or inability to conceive a child).

The experienced and compassionate  physicians at Georgia Pediatric Urology are skilled in the management of this challenging condition.