Increasingly, parents may learn of a possible DSD before birth. For example, a family may learn the child’s chromosomes from amniocentesis, or prenatal ultrasound may detect abnormal genital development. In these situations, prenatal consultation may be useful.
The first question after a baby is born is usually, “Is the baby a boy or a girl?” Sometimes, the genitalia are not clearly that of a boy or a girl. This situation is referred to as ambiguous genitalia. This can be a challenging time for parents who have waited throughout the pregnancy to discover the sex of their baby. When it occurs, the labor and delivery team consults our specialists in DSD. We see a wide range of infants born with these conditions.
For a newborn, the process of diagnosing the specific condition and determining medical needs begins right after birth. The team accomplishes this evaluation at the hospital and provides any urgent care that may go along with the condition. For example, an opening for urination can be missing or a baby may not have enough cortisol, a life-sustaining hormone. These conditions must be treated early to avoid serious complications. At first, the most important concerns are these serious health issues. As our medical team addresses the health issues, we also gather information to help assign the gender of rearing as quickly as possible.
Sometimes, a question of a DSD is raised after the baby has gone home from the hospital. In this situation, the team recommends the best plan to diagnose the condition. This may include admission to the hospital or outpatient consultation with the specialists.
A DSD can also be found after infancy. While these situations may be less obvious, they are just as important. One of the most common situations is when hernia surgery in a presumed girl finds a testicle present in the pelvis. A DSD can also be diagnosed when a girl does not start her menstrual cycle at the expected age. Other, rarer situations include when a girl starts to develop characteristics such as facial hair or unexpected growth of the clitoris at puberty or a boy starts to have growth of the penis at a young age.