Ambiguous Genitalia

When a child's gender is in question at birth, because genitals may not appear clearly male or female, the child is said to have ambiguous genitalia.


What Are Ambiguous Genitalia?


Early in fetal development, the tissue that will become the gonads (ovaries or testes) is undifferentiated and has the potential to become either ovaries or testes, depending on the genetics of the fetus.

There is a gene located on the Y (male) chromosome, called "SRY," which, if present, will cause the undifferentiated gonad to become testes (indicating a male) around the 6th week of fetal life. At the same time, regression of what would have been the female reproductive tract occurs. As the testes produce testosterone, the phallus (penis), scrotum, and urethra form. Later, during the 7th to 8th month of the pregnancy, the testes will descend into the scrotum.

In the absence of the SRY gene, the gonad will differentiate into an ovary (indicating a female). Likewise, the female reproductive tract will continue to develop, forming the uterus and fallopian tubes. At the same time, regression of what would have become the male reproductive organs occurs.

A variety of genetic and environmental factors may influence this development, leading to ambiguous genitalia. Ambiguous genitalia, as the word implies, may make determining the child's gender more difficult. Typically, the following is observed at birth:

  • A female with severe virilizing (overproduction of male hormones) who appears to have a small penis
  • A male with an abnormally small penis that resembles a female clitoris (due to an insensitivity to male hormones or failure to produce male hormones)

Pseudohermaphrodites are children who have questionable external genitalia, but have only one gender's internal reproductive organs. There are a number of causes of female pseudohermaphroditism, including overproduction of male hormones before birth or adrenal gland abnormality.

There are a number of other syndromes in which ambiguous genitalia is one feature (characteristic) of the disorder, in addition to other features.


How is gender determined?


When a child's genitalia appear ambiguous at birth, your child's physician will conduct both a medical history and a physical examination of your child's external genitalia. The medical history will include the mother's health during pregnancy and a family history of any neonatal deaths or genital abnormalities. First, your child's physician will make a diagnosis of the underlying cause of the disorder. Diagnostic procedures may include a newborn screening test for congenital adrenal hyperplasia , hormonal studies, and a biopsy of the reproductive organs.

To determine the sex, your child's physicians will consider the following:

  • A pelvic ultrasound (to check for the presence of female reproductive organs)
  • A genitourethrogram to look at the urethra and vagina if present
  • A chromosomal analysis (to help determine genetic sex: 46, XX or 46, XY)
  • Fertility potential of a female pseudohermaphrodite
  • Size and potential for growth of a penis present in a male pseudohermaphrodite
  • Ability of an internal reproductive organ to produce appropriate sex hormones for the gender "assigned" to the child
  • Risk of future health conditions (i.e., cancer) that may develop in the original reproductive organs later in life
  • The actions of male or female hormones on the fetal brain
  • Your opinion or preference


Treatment for Ambiguous Genitalia


Sometimes, there is an increased risk for tumors in the gonads. Treatment for ambiguous genitalia depends of the type of the disorder, but will usually include corrective surgery to remove or create reproductive organs appropriate for the gender of the child. Treatment may also include hormone replacement therapy (HRT).

Long-term Outlook for Children Born with Ambiguous Genitalia

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).

North Shore-LIJ gynecologists are experienced in the diagnosis and surgical repair of ambiguous genitalia. For more information on ambiguous genitalia or to schedule a consultation, please contact the Division of Pediatric and Adolescent Gynecology at Cohen Children’s Medical Center of New York at 516-390-9258.  For an emergency call 911 or go to the Cohen Children's Medical Center Emergency Room.