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Ambiguous genitalia is a rare condition. It is when a newborn's genitals aren't strictly male or female. Sometimes, the external sex organs also may not match the internal sex organs or the genetic sex of the baby.
Ambiguous genitalia is often a sign of one of several conditions categorized as a disorder of sex development – often referred to as a DSD.
Genetics factor into disorders of sex development (DSD). If there's a family history of ambiguous genitalia, a baby may be at higher risk of inheriting it.
Ambiguous genitalia or DSD happens in about one in 1,500 births. Some of the conditions are very rare, occurring in one out of 20,000 births. Other types are more common. Both and girls can be affected by ambiguous genitalia.
Normally, a baby's genetic sex is determined at conception, based on the sex chromosomes. A genetic female has two X chromosomes, one each from her father and mother. A genetic male has an X chromosome from his mother and a Y chromosome from his father.
The development of ambiguous genitalia can be caused by abnormalities in the chromosomes, in the development of ovaries or testes, or in hormone production. For example, the fetus may have a missing sex chromosome or an extra one. Other cases of ambiguous genitalia happen after the genetic sex – XX or XY – is determined. They can develop because of a lack of male hormones in a genetic male fetus, or because a genetic female fetus is exposed to male hormones. Ambiguous genitalia can also develop through other disruptions in fetal development of the sex organs.
Because there are different types of ambiguous genitalia, there are also different symptoms.
Females with ambiguous genitalia may have an enlarged clitoris, labia that are fused or convergence between the urethra and vagina.
Males may have a shortened penis, urethral opening on the shaft of the penis or closer to the scrotum, or two undescended testicles.
Ambiguous genitalia is usually not life-threatening unless a child has congenital adrenal hyperplasia (CAH). "Salt-wasting" CAH can be life-threatening due to a salt imbalance that can cause dehydration, low blood pressure and shock.
Congenital adrenal hyperplasia (CAH)
CAH is a genetic disorder of the adrenal glands. In CAH, the adrenal glands are not able to produce cortisol and aldosterone and overproduce androgens. Females born with this condition are sometimes born with an enlarged clitoris or a fused labia, or both, but have normal internal reproductive structures. Males typically have normal-appearing genitals. CAH is managed with lifelong medication to control the adrenal glands.
Mixed gonadal dysgenesis
Mixed gonadal dysgenesis, or MGD, is one of the most common DSDs. It's a chromosomal abnormality that causes a child to have two different gonads, which are the sex glands that produce testes in males and ovaries in females. With MGD, the person has one undescended testicle and a malformed gonad.
The two different gonads can't produce normal sex hormones; that results in malformed sex organs. Therefore, it can be difficult, initially, to classify as boys or girls.
Androgen insensitivity syndrome (AIS)
Androgen insensitivity syndrome (AIS) happens when a person who is genetically male (has XY chromosomes) is resistant to male hormones called androgens. This resistance is due to a defect in one or more of the androgen receptors. As a result, the person's genitals are typically female in appearance, but the person does not have internal sex organs.
Ambiguous genitalia is often diagnosed at birth or shortly after. Doctors and nurses who help with the delivery may notice signs of ambiguous genitalia in the baby.
Often, blood tests, imaging procedures or chromosomal analysis – along with a family history – are needed to understand the baby's medical condition. All of this information is important because it can guide treatment and decisions about the baby's gender.
Ambiguous genitalia is uncommon and complex. Parents and their trusted team of medical experts often work together to make treatment decisions. The team could include specialists, such as a pediatric urologist, pediatric endocrinologist, geneticist, psychologist and social worker.
Learn more about DSDs
Treatment of conditions associated with ambiguous genitalia can include medication to treat hormone-related difficulties or surgery to enable normal urinary and menstrual functioning, or both.
Surgery to change the appearance of the genitals is controversial. Some families choose to do early surgery. Some choose not to do surgery at all. Others delay surgery until after puberty and when the patient can be involved in the decision-making.
Treatment goals are to:
Many patients require life-long hormone replacement therapy to keep hormones at normal levels and to help their body match the gender with which they identify.
With proper medical, surgical and psychological care, most children with ambiguous genitalia lead healthy lives.
If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices.