Clinical Topic
Publication Date
April 17, 2026
What is a DSD?
The term “differences in sex development” or DSD refers to the situation in which the baby’s external genitalia appear atypical. In other words, the external genitalia do not look typical for a boy or a girl. Approximately 1 in 4000 infants have a DSD. Atypical external genitalia are usually noted at birth. For some, the diagnosis may be made later during childhood or adolescence. Your doctors may recommend obtaining blood samples and ultrasound studies. This testing may show variations in your child’s genes and the reproductive structures inside of their body.
Can a DSD be diagnosed prenatally?
As prenatal testing becomes more prevalent, children with DSD may be identified before birth. More families are opting to get cell free DNA (cfDNA) testing, known as non-invasive prenatal screening (NIPS), usually around 10 weeks of pregnancy, or amniocentesis a bit later to screen for other chromosomal anomalies. These tests provide limited information and may be inaccurate. However, this testing may suggest some chromosomal abnormalities early in pregnancy. Ultrasound imaging in the second trimester of your pregnancy may suggest that the baby is a boy or girl based on the presence or absence of a penis. In some cases, this finding may not match the cfDNA results, and could be a sign that the baby has a DSD.
How should I approach the possibility of DSD with abnormal prenatal testing?
Upon receiving initial results, your obstetrician will review what this means for the rest of the pregnancy and begin to discuss potential issues for your baby. At some centers, a referral will be made to see pediatric subspecialists, such as genetics, endocrinology, and urology, before the birth of your baby. The goal is to provide additional information about the diagnosis and potential treatment options prior to the baby’s birth. Importantly, prenatal testing is merely a screening test. Chromosomes, other hormone tests, and imaging studies will need to be done after birth to confirm the diagnosis. Your pediatrician and pediatric subspecialists (endocrinology, genetics, urology/surgery, pediatric gynecology) comprising the interdisciplinary DSD team will help to coordinate care of the infant after birth.
With whom and how should I discuss this diagnosis?
With the announcement of a pregnancy, family and friends are curious about the sex of the baby. Once the diagnosis of a DSD is suspected or confirmed, the prospective parents/caregivers may be uncomfortable discussing the baby’s sex. There is no need to share everything at one time. For example, if asked about how the baby is doing, it is ok to simply state something like “the baby is growing well”, or that “we are awaiting final results on genetic testing”. How much a family decides to share at this time will be largely driven by their support system and family values, and these considerations should be discussed with the DSD team early in the process.
The interdisciplinary DSD team will assist with providing appropriate resources regarding the condition, potential treatment options, anticipated outcome, and future considerations. Though a DSD is a medical condition, parents/caregivers may find it challenging to explain what this means to close friends and family members. The DSD team may include a psychologist, who can help discuss and process available
information. Parents/caregivers may need to practice what specific words and how to share information with family and friends. Parents/caregivers should be encouraged to participate in the discussions with the interdisciplinary DSD team and advocate for their child’s health.