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 may be useful.

Detec​tion in Infants

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.

Detection i​n Children Adolescents

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.

Diagnosis

Diagnosing differences of sex development and planning healthcare involves many specialists. During this uncertain time, parents experience a strong mix of emotions; so, too, may a child with a possible DSD. Families can rely on great sensitivity from everyone on our team for your family’s privacy and our respect for the emotional difficulty of this time. Our psychologist is an integral and knowledgeable part of the team who assists each family from the beginning of the evaluation.

Tests & Ex​ams 

Our thorough approach uses physical examination and many types of testing to determine what is going on inside and outside. The process seems complicated because we need to gather a great deal of information. We need to learn about the child’s genetic makeup, how the hormones are working and the exact anatomy of the internal and external genital structures. The information helps families determine the gender that they will raise their child.

During this process, the parents’ presence is very helpful as our specialists examine the child. Parents come to understand their child’s anatomy and become more comfortable with the situation. In addition, we explain the testing that is needed and reassure the family about the amount of blood drawn for the tests. Testing has to be done at specific times and often over several days. The tests are usually these:
  • Karyotype test to determine chromosomes
  • Hormone tests 
  • Electrolyte tests such as sodium, potassium and glucose levels 
  • Radiographic testing (Ultrasound, MRI, genitogram)

For an infant, the series of test and exams help the team, with the child’s parents, to make a gender assignment (as a boy or girl), keep the child healthy and plan long-term care. Our team understands that this is a difficult time for parents to wait for the results of testing. 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.

We require as complete an understanding as possible because this information often gives us clues as to what gender the child will feel like as they grow up. Having all the information for the team and parents is important before assigning a gender to the child.

For children and adolescents, the evaluation often has less urgent medical concerns, but our team respects the family’s concern and anxiety at this time, too. We know that parents want to understand their child’s condition as quickly as possible. We also know that acknowledging an older child’s sensitivity is important. We take care to minimize genital examination.

Our psychologist can be very helpful to parents in explaining matters to children in an age-appropriate, reassuring and loving way. We also provide access to informal and formal peer support connections for the child, parents, other relatives, school personnel and caregivers as desired by the family.