Boy or Girl? When the Answer Isn’t Clear

You’re thrilled your little one is healthy, but something didn’t go quite right as your baby’s body was forming. As a result, your child may have genitalia that looks different from that of the typical boy or girl.

How does this happen? Your baby’s gender was determined at conception through the chromosomes inherited from you and your partner.

Your egg cell contained an X chromosome, and the father’s sperm cell contained either an X chromosome or a Y chromosome. If your baby is a girl, she received an X chromosome from Dad; if you have a boy, he received a Y chromosome from Dad.

Developmental Problems May Occur

In the weeks immediately following conception, the tissue that will form the male or female reproductive organs and genitalia is essentially the same. At about the sixth week of fetal development, the male or female characteristics begin to form and continue to develop throughout the pregnancy. In some rare cases, however, a variety of genetic and environmental factors may create problems in this developmental process causing a condition known as ambiguous genitalia, which may make determining the child’s gender difficult.

Examples of the condition include, among others:

• The presence of both ovarian and testicular tissues

• The presence of both genders’ internal reproductive organs

• External genitalia that are partially ambiguous. Genetic females may have an enlarged clitoris or fused labia, which may have tissue within them resembling testicles. Genetic males may have a small penis, small scrotum, and often undescended testes.

There are a number of causes for this condition. In females, the most common cause is a defect in an enzyme in the adrenal gland. In males, possible causes may also be an adrenal gland abnormality or high levels of male hormones that may enter the placenta via the mother, such as when she receives progesterone to prevent a miscarriage.

A pediatrician or pediatric endocrinologist can diagnose ambiguous genitalia in the first few days or weeks after birth, following thorough physical examination and testing. While this is not usually a medical emergency, a team of experienced specialists needs to be involved early to ensure the optimal social and psychological outcome for the child and family.

Treatment for the condition depends on the type of the disorder, but may include corrective surgery to remove or create reproductive organs appropriate for the gender of the child. Treatment may also include hormone replacement therapy.

Help Is Available

Making a correct determination of gender is important for treatment purposes, as well as for the emotional well-being of the child. It may be necessary for the parents to make a decision whether to raise the child as a male or a female. Doctors may make an appropriate suggestion to the parents based on their physical examination and evaluation of the baby and family history.

When faced with a difficult decision regarding their baby’s gender, parents can receive guidance and support from their pediatricians, mental health providers, and support groups.