Differences of Sex Development (DSD)

Differences of Sex Development (DSD)

What to Expect After the Birth of a Baby with Atypical Genitalia

Congratulations on the birth of your baby!  This handout will help you understand the first steps of caring for a baby with atypical external genital development. Such conditions affect the development of the external genitalia and are called “Differences of Sex Development”. Other names for your baby’s situation include “variants in sex traits” or “variations in sex characteristics”. For this information sheet, we will use the abbreviation “DSD”.

What are Differences of Sex Development (DSD)?

The DSD are a group of situations where a newborn is born with external genitalia, internal reproductive parts, and/or chromosomes that do not fit the typical definition of female/girl or male/boy. These conditions are due to variations in the prenatal (in utero) development of the reproductive system. These variations can cause the external genitals to look different than one might expect based on the sex chromosomes or gonads. Approximately 1 in 4000 babies has a DSD. Please note that nothing that you did or did not do caused your baby to have a DSD.

The baby’s chromosomes may vary from the typical 46,XX associated with girls or the typical 46,XY associated with boys. The internal reproductive parts include the gonads (ovaries or testes) and the uterus. These internal structures may also differ from typical. There are many causes of DSD. Your healthcare team’s goal is to identify the likely reason that your baby has atypical genital development and identify if your baby has any needs for immediate medical treatments.

Interdisciplinary Care Team

In most instances, a team of healthcare professionals will help in the care of your baby.  Here are some specialists that you may meet in the hospital and at follow-up visits:

• Pediatric Endocrinologist – a healthcare professional who specializes in hormone imbalances. They will help find out what hormones your baby is making and what led to variation in your baby’s development. They will also assess for serious medical conditions that can impact your baby’s health.
• Urologist – a healthcare professional who specializes in urinary tract disease and the reproductive system. Some individuals with DSD may have differences in kidney development or problems with urinating. The urologist will help you understand your baby’s urinary tract anatomy and discuss any potential complications.
• Gynecologist – a healthcare professional who specializes in disorders of the female reproductive system. They will also help you understand your baby’s internal reproductive organs and any potential complications.
• Geneticist – a healthcare professional who specializes in inherited disorders and genetic causes of health conditions. They will explain some tests that might help with finding the diagnosis for your baby. They can help explain how some DSD conditions are passed down (inherited) in a family.
• Pediatrician – you have likely selected a general pediatrician to help with your baby’s routine care. Your pediatrician will help monitor your baby’s growth and development. The Interdisciplinary Team will regularly update your pediatrician about your baby.
• Psychologist, Behavioral Health Specialist, or Social Worker – a healthcare professional who will help support and guide your family during this time. Having a child with DSD may be overwhelming. Taking care of a newborn infant while learning about your baby’s medical situation can be challenging and tiring. Explaining your baby’s health status to family members may be difficult.
• Nurse Educators – a healthcare professional who often works with pediatric endocrinologists. The nurse educator is another resource for information about your baby’s health status.
• You may also meet with newborn intensive care doctors and other important team members.
• The Interdisciplinary Team of healthcare professionals is specially trained to help you and your family members. They can provide valuable resources to you.

Evaluation of a Baby with Suspected DSD

DSD can be suspected in some babies during pregnancy based on the appearance of the external genitalia on prenatal ultrasound imaging. For some, differences between prenatal ultrasound findings and noninvasive prenatal screening tests (NIPT) lead to suspicion that a baby might have a DSD. If there is suspicion for a DSD, your baby’s hospital team may obtain a blood sample to check some hormone levels to help learn your baby’s diagnosis. Usually, a blood sample from the baby is obtained for chromosome analysis. Some blood tests can be done right away and others must be done a few days after birth. It may take several weeks for the results of some blood tests to be available.

Some conditions associated with DSD are associated with serious medical conditions; your baby’s healthcare team will check for these conditions. The team may also recommend genetic testing to help understand your baby’s specific condition. Your baby may have an ultrasound or other imaging studies to learn what reproductive parts are inside their body. Once urgent health issues are ruled out, the evaluation may continue in the outpatient clinic setting rather than in the hospital. You may wish to delay naming your baby and announcing your baby’s sex until the medical evaluation has been completed. You and your baby’s doctors will review the results and discuss opportunities for your baby.

Determining Sex Designated at Birth

Parents want to know whether the baby is a boy or girl. There are many things to think about when the medical team discusses options regarding the sex designated at birth for your baby. This involves several conversations between parents and the healthcare team to promote shared decision making. Factors that are considered in these conversations include:

• Physical exam: appearance and symmetry of the external genitalia, location of the gonads, number of openings on the baby’s perineum (“bottom”)
• Internal reproductive parts such as the presence of a uterus
• Hormone levels
• Results of chromosome testing
• Potential for fertility

Your healthcare team will discuss your baby’s specific situation. You and your baby’s healthcare team will consider and decide together the preferred designated sex for your baby. The term “sex” refers to sexual anatomy and the reproductive system including internal and external genital structures, chromosomes, and hormone levels.

In today’s world, families often wonder about a baby’s gender identity. Only an individual can know their gender identity and sometimes an individual changes their gender identity. Therefore, it is impossible to predict the future gender identity for a newborn baby. As your child grows, your child will self-identify and share their gender identity.

Discussion with Family and Friends

It can be hard to tell others about having a baby with a DSD. You are not obligated to explain your baby’s situation to every family member or friend. You can explain that your baby has a health problem and that you are waiting for test results before sharing any information about your baby.

Your healthcare team will provide the details to help you understand your child’s specific situation. How much and what information to share is up to you.  For example, some parents say: “The doctors are doing some tests and we will update you when we know more. We can share that they are taking good care of us and that we are all healthy.” Other parents choose to share more details about the baby and possible diagnosis.  One important thing to keep in mind is that most people just want to know that the baby and parents are okay. The Interdisciplinary team members can help you choose words for sharing information with your family and close friends.

Again, congratulations on the birth of your beautiful baby!

For more information, please check out this educational video from the Pediatric Endocrine Society:

Patient Education Videos – Pediatric Endocrine Society (pedsendo.org)