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Pediatric Ambiguous Genitalia

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Summary

Ambiguous genitalia is a rare condition in which an infant’s external genitals don't appear to be clearly male or female. The genitals may not be well-formed or the baby may have characteristics of both sexes. And, the infant’s external sex organs may not match his or her internal sex organs or genetic sex.  

Expanded Overview

While a child’s genetic sex is determined at conception, the male and female reproductive organs and genitals both develop from the same tissue in the fetus. If this process is disrupted, ambiguous genitalia can develop. The main factor controlling this process is the presence of male hormones. The presence of male sex hormones causes male organs to develop and the absence of male hormones causes female organs to develop.

Causes

A child born with ambiguous genitalia will generally have a condition that will be in a category called Disorders or Sex Development (DSD). There are many different causes for DSD.  Any step along the development of the gonads and genitalia can be disrupted and lead to DSD.  For example: there may be a genetic abnormality that leads to improper development of the gonads, there may be problems with the creation of hormones needed for development of the genitalia, the receptors for the hormones can have problems with detecting the hormones, or there can be too much of a certain hormone leading to abnormal development. 

  • In genetic females, congenital adrenal hyperplasia (a genetic condition that causes the adrenal glands to produce excess male hormones), prenatal exposure to male hormones if the mother uses certain drugs or has a hormonal imbalance, or – rarely – a tumor affecting the mother, can lead to ambiguous genitalia.

  • In genetic males, causes of ambiguous genitalia may include impaired testicle development due to genetic abnormalities, androgen insensitivity syndrome (in which the genital tissues don’t respond normally to male hormones, structural problems with the testes or problems with testosterone production, or an enzyme defect that impairs normal male hormone production.

Family history may play a role in the development of ambiguous genitalia, because many disorders of sex development result from genetic abnormalities.

When a child is born with ambiguous genitalia and a DSD, this is obviously a very stressful time for parents.  The evaluation of a child born with ambiguous genitalia begins soon after birth. At Children’s Health we have extensive experience in managing children with DSD and strive to provide compassionate and excellent care to the patients and families. 

Our goal is to ensure the child is medically stable, relay information to families and ensure their understanding, order appropriate diagnostic tests, and make an accurate diagnosis.  Sometimes reconstructive surgery is needed for children with DSD and our physicians have extensive experience with a wide variety of surgical techniques. 

Some specific conditions that lead to ambiguous genitalia or conditions that may be present are listed below

Symptoms

In genetic females (babies with two X chromosomes - 46XX):

  • An enlarged clitoris that looks like a small penis
  • A urethral opening (where urine comes out) positioned anywhere along, above, or below the surface of the clitoris
  • Fused labia that may look like a scrotum
  • A lump of tissue within the fused labia that can be confused with testicles

In genetic males (one X and one Y chromosome - 46XY):

  • A small penis/micropenis (less than 2 - 3 centimeters) that looks like an enlarged clitoris
  • A urethral opening  positioned anywhere along, above, or below the penis – even as low as on the perineum
  • A small scrotum that is separated and looks like labia
  • Undescended testicles (UDT)

Tests and Diagnosis

If your infant is born with ambiguous genitalia, your doctor may order:

  • A pelvic ultrasound (to check for the presence of female reproductive organs)
  • A chromosomal analysis to help determine genetic sex
  • A blood test to check levels of male and female hormones

Using information from these tests, your doctor will suggest an appropriate gender for your baby based on genetic sex, anatomy, and future reproductive and sexual potential.

It’s important to wait until test results are in to assign your baby a gender. Gender assignment can be complex and often unpredictable. Parents should be aware that as the child grows up, she may make a different decision about her gender identification.

Treatment

Ambiguous genitalia is uncommon and complex, and treatment often requires cooperation among pediatricians, neonatologists, pediatric urologists, pediatric general surgeons, endocrinologists, geneticists, and psychologists or social workers.

Hormone Medication

Hormone medications may help correct or compensate for the hormonal imbalance. For example, in a genetic female with a slightly enlarged clitoris caused by a minor to moderate case of congenital adrenal hyperplasia, proper levels of hormones may reduce the size of the tissue. Other children may take hormones around the time they would normally experience puberty.

In children with ambiguous genitalia, surgery may be used to:

  • Preserve normal sexual function
  • Create more natural-looking genitals

Surgery

The timing of surgery will depend on your child's specific situation. Some doctors prefer to postpone surgery until your daughter is mature enough to participate in the decision about gender assignment.

For girls with ambiguous genitalia, the sex organs may work normally despite the ambiguous outward appearance. If a girl’s vagina is hidden under her skin, surgery in childhood can help with sexual function later.

Results of surgery are often good, but repeat surgeries may be needed later. Risks include a disappointing cosmetic result or sexual dysfunction.

FAQs

What is the outlook for a girl born with ambiguous genitalia?

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). But importantly, most children with ambiguous genitalia are usually healthy.

Where can I find support for my child and our family?

Your doctor can recommend counseling and psychological support for your child and your family, as well as local and online support groups.

Resources

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