Detection & Diagnosis

Detection

Prenatal Detec​tion

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.

Detec​tion 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 i​n 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.

Diagnosis

Diagnosing differences of sex development and planning healthcare involves many specialists. Our multidisciplinary team provides compassionate and respectful care during this sensitive time.

Tests & Ex​ams 

We implement a comprehensive approach to diagnosis, including a physical examination and clinical testing to determine what is going on both internally and externally. This information allows our team to understand patient’s genetic makeup, how the hormones are working, and the exact anatomy of the internal and external genital structures.

Testing has to be done at specific times and often over several days. We ensure that families understand the nature of these tests such as:

  • Karyotype test to determine chromosomes
  • Hormone tests 
  • Electrolyte tests such as sodium, potassium and glucose levels 
  • Radiographic testing such as ultrasound

For infants, these tests and exams help the team, in collaboration with the child’s parents, to make a sex designation (as a boy or girl). Our goal is to determine results as quickly as possible, but most importantly for this work to be done correctly. Some of the testing may require multiple days or weeks for results.

For children and adolescents, we understand that sensitivity during tests and exams is important and as a result we minimize genital examination as much as possible.