Ambiguous genitalia

Norton Children’s Gynecology is the only practice in Kentucky, Louisville and Southern Indiana dedicated to pediatric gynecological care. Our board-certified physicians are trained to treat ambiguous genitalia with the sensitivity that children, teens and parents need.

Ambiguous genitalia is a rare condition in which a baby’s genitals don’t have the typical appearance of either a boy or a girl. The genitals may be incompletely developed, or a baby may have characteristics of both sexes.

A baby’s genetic sex is determined at conception based on the chromosome match between the father’s sperm and the mother’s egg.

A diagnosis of ambiguous genitalia may be stressful for your family. We will provide counseling that can help guide decisions about your baby’s gender and necessary treatment.

Ambiguous genitalia treatment

Our team of specialists will look for an underlying cause of your child’s condition. This will help guide treatment and decisions about your baby’s gender.

We’ll examine your baby’s external anatomy, internal anatomy, hormonal development and urinary functioning. Your child may receive a blood or urine test to help us understand your child’s hormones. An ultrasound may be performed to examine the internal reproductive organs. Other tests, such as an X-ray or endoscopy, may be necessary.

When the diagnosis is finalized, genital reconstruction may be planned and performed based on your child’s unique condition. The goal of treatment is long-term psychological and social well-being, as well as to enable sexual function and fertility to the greatest extent possible.

Causes of ambiguous genitalia

A variety of genetic, hormonal and environmental factors may lead to ambiguous genitalia.

Ambiguous genitalia can develop if the process that causes fetal tissue to become “male” or “female” is disrupted.

Possible causes of ambiguous genitalia in genetic females include:

  • Congenital adrenal hyperplasia (CAH), which causes the adrenal glands to create excess male hormones
  • Prenatal exposure to male hormones
  • A tumor in the mother can produce male hormones.

Possible causes of ambiguous genitalia in genetic males include:

  • Impaired testicle development due to genetic abnormalities or unknown causes
  • Androgen insensitivity syndrome
  • 5-alpha reductase deficiency, which impairs normal male hormone production
  • Prenatal ingestion of substances with female hormones, such as estrogen
  • Abnormalities with testes or testosterone

Ambiguous genitalia also can be a feature of certain rare, complex syndromes.

Ambiguous genitalia signs

The severity of ambiguous genitalia can vary greatly. In rare cases, a baby’s physical appearance may develop as the opposite of the genetic sex.

Babies who are genetically female (with two X chromosomes) may have:

  • Enlarged clitoris that may resemble a small penis
  • Closed labia that may resemble a scrotum
  • Lumps within the labia that feel like testes

Babies who are genetically male (with one X and one Y chromosome) may have:

  • A condition called hypospadias, in which the tube that carries urine and semen doesn’t extend to the tip of the penis
  • An abnormally small penis that may resemble an enlarged clitoris
  • Absence of one or both testicles
  • Undescended testicles and an empty scrotum that may resemble a labia

Occasionally, prenatal ultrasound may reveal ambiguous genitalia.

Gynecology – 1750

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(502) 559-1750


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