Intersex and ambiguous genitalia

When a baby has ambiguous genitalia, it means that there is some question about whether the child is male or female. In about 1% of all births, babies have some form of ambiguous genitalia, such as a very large clitoris or very small penis. In more rare cases—between 0.1% and 0.2% of live births—genitalia is so ambiguous that medical specialists are brought in for a consultation. For example, a baby may have a vagina, but lack a uterus, cervix, and ovaries. A child may lack the hormones such as testosterone that create male body characteristics. A baby may have male organs, such as testes and a small penis, as well as female organs, such as a vagina.

Ambiguous genitalia is a catch-all term that often is used for babies that have obvious anatomical anomalies in the reproductive organs as well as hormonal and other issues. There are many conditions that can result in ambiguous genitalia, including:

  • 5-alpha reductase deficiency
  • Androgen insensitivity syndrome
  • Aphallia
  • Clitoromegaly
  • Congenital adrenal hyperplasia
  • Gonadal dysgenesis
  • Hypospadias
  • Klinefelter syndrome
  • Micropenis
  • Mosaicism involving sex chromosomes
  • MRKH (mullerian agenesis; vaginal agenesis; congenital absence of vagina)
  • Ovo-testes (formerly called “true hermaphroditism”)
  • Partial androgen insensitivity syndrome
  • Progestin induced virilization
  • Swyer syndrome
  • Turner syndrome

What is it caused by?

In some cases, the disorders that cause ambiguous genitalia are inherited. In rare cases, the cause has been a drug called progestin, which was used in the 1950s and 1960s in order to prevent miscarriages. In most cases, the cause is unknown.

How is it treated?

The first step is to determine whether there is an underlying disorder causing your child’s ambiguous genitalia, and to begin the process of determining your child’s sex. This involves examinations of external anatomy, internal anatomy, hormonal development, and urinary functioning. In some cases, when a family member is known to carry a gene leading to ambiguous genitalia, diagnostic tests can begin when your child is still in the womb. After birth, your child may receive a blood or urine test to help physicians understand your child’s hormones. An ultrasound may be performed to help physicians see the reproductive organs on the inside of the body. Other tests, such as an x-ray or endoscopy, may be necessary as well.

When the diagnosis is finalized, genital reconstruction may be planned and performed, based on the your child’s unique condition. Medication may be necessary.

One of the first questions parents and community members ask about a new baby is whether the child is a boy or girl, but for children with ambiguous genitalia the answer is not so simple. Gender is a complex mix of anatomy, hormones, socialization, cultural norms, and other factors. Diagnosing and deciding on treatments for ambiguous genitalia can be very stressful for parents. At Children’s, a multidisciplinary team of physicians, including pediatric surgeons, neonatologists, psychologists, and other providers, work together to make the diagnosis as quickly as possible, and to work with you on the best treatment for your child.

About surgery for intersex/ambiguous genitalia at Children’s

The pediatric urology surgery team at Children’s provides next-generation care to neonatal infants, newborns, children, and adolescents from throughout the Upper Midwest. The team consistently performs some of the most cutting-edge surgical procedures available, including newborn surgery, minimally invasive surgery, and robotic surgery, when appropriate. Urologic surgery is performed at Children’s – Minneapolis, Children’s – St. Paul and Children’s – Minnetonka.

  • If you are a family member looking for a Children’s specialist in urology surgery, please call the Center for Pediatric Urology at 1-800-992-6983.
  • If you are a health professional looking for a consultation or referral information, please call Children’s Physician Access at 1-866-755-2121 (toll-free).