Prenatal Detection
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 with our team is recommended.
Detection in Infants
Some healthy children are born with genitalia that is not clearly male or female. This situation is referred to as atypical (or ambiguous) genitalia. When this occurs, the labor and delivery team or pediatrician consults our DSD specialists.
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 designate the sex of rearing as quickly as possible.
Sometimes, a question of a DSD is raised after the baby has gone home from the hospital. In these situations, the team may recommend admission to the hospital or outpatient consultation with our DSD specialists.
Detection in Children & Adolescents
A DSD can also be found after infancy. Commonly, a girl undergoes hernia surgery, but during surgery testicles are found to be present in the pelvis. Other times a DSD may be diagnosed after a puberty does not occur in a typical way (ex. not starting a menstrual period), if a girl starts to develop characteristics such as facial hair or unexpected growth of the clitoris at puberty or if a boy starts to have growth of the penis at a young age.