Atypical Genitalia

Some babies are born with genitals that aren't clearly male or female. This is called a difference of sex development (DSD), previously known as ambiguous genitalia. It's a rare condition. The baby's external sex organs – like the penis, scrotum, clitoris, and labia – might not look like what we typically expect, might be partially developed, or might have features of both sexes. Importantly, the external parts might not match the internal sex organs (like the vagina, uterus, ovaries, testicles, fallopian tubes, or prostate) or the baby's genetic makeup. Genetic sex is determined by chromosomes: two X chromosomes indicate a genetic female, while one X and one Y chromosome indicate a genetic male.

External genitals are the sex organs you see on the outside of the body. Internal genitals are the sex organs inside the body. The ovaries and testicles (gonads) produce hormones that play a crucial role in sexual development. These hormones influence physical characteristics, like body shape and hair growth, and are essential for reproduction.

DSD isn't a disease. It's simply a difference in how a baby's sex develops. Often, this difference becomes noticeable at or soon after birth. This can be a difficult and emotional time for families. Doctors will work to understand the specific cause of the DSD. They will provide information, support, and counseling to help families make informed decisions about their child's care and future. This may include discussions about what name to use, how to manage any needed treatments, and how to support their child's overall well-being.

Doctors often notice unusual-looking genitals in newborns shortly after birth. Sometimes, these differences are suspected even before the baby is born. The way the unusual genitals look depends on when and why hormone changes during development affected the baby's body.

Babies with two X chromosomes (genetically female) might have some of these differences:

• Enlarged clitoris: This might look like a penis.
• Closed labia: The folds of the labia might look like a scrotum.
• Lumps that feel like testicles: These lumps might be found within the fused labia.

Babies with one X and one Y chromosome (genetically male) can also have variations:

• Hypospadias: The tube that carries urine and semen (the urethra) might not reach the tip of the penis. If the opening is on the underside of the penis, it's called hypospadias. This means the opening is in a different place than usual.
• Small penis with urethral opening near the scrotum: The penis might be very small, and the opening for the urethra might be closer to the scrotum than usual.
• Missing testicles: One or both testicles may be missing from the scrotum.
• Undescended testicles (cryptorchidism): The testicles might be located inside the body instead of in the scrotum. This can result in a scrotum that appears similar to labia, possibly with a very small penis (micropenis).

These differences in appearance can be due to various factors affecting the development of the genitals. It's important for doctors to carefully examine newborns and identify these differences to provide appropriate medical care and support for the family.

Understanding Differences in Baby's Sex Development

A baby's sex is typically determined at the moment of conception, when the egg and sperm combine. The egg always carries an X chromosome, while the sperm carries either an X or a Y chromosome. If the sperm carries an X, the baby will have two X chromosomes, and will be genetically female. If the sperm carries a Y, the baby will have one X and one Y chromosome, and will be genetically male.

A baby's sex organs, both internal and external, don't start out as male or female. Instead, they begin as a kind of "blank slate" of tissue. The chromosomes (X or Y) and the presence or absence of certain hormones, particularly androgens, determine whether this tissue develops into male or female organs.

• How it works in a typical male: In a baby with a Y chromosome, a specific region on that chromosome triggers the development of the testicles. The testicles then produce androgens, hormones that guide the development of male genitals.

• How it works in a typical female: Without a Y chromosome, and without the influence of androgens, the developing tissue naturally forms into female genitals.

Sometimes, things don't go exactly according to plan. These variations can cause differences between a baby's genetic sex (XX or XY) and the appearance of their external genitals, which we call atypical genitalia. This can happen for a variety of reasons:

• Hormonal Imbalances: A mismatch can occur if a genetically male baby doesn't produce enough androgens, or if a genetically female baby is exposed to too much of these hormones during development. This exposure might come from the mother's body, certain medications, or rare circumstances.

• Genetic Changes: Changes in genes can interfere with the normal development process, leading to atypical genitalia. These changes can affect how the body responds to hormones or the development of the sex organs themselves.

• Rare Syndromes: Some rare genetic conditions, affecting many parts of the body, can also cause atypical genitalia. These syndromes can involve extra or missing chromosomes.

• Unknown Causes: In some cases, the reason for atypical genitalia remains unclear.

Specific Causes in Genetic Females:

• Congenital Adrenal Hyperplasia (CAH): Some forms of CAH cause the adrenal glands to produce too many androgens, which can lead to masculinization of the external genitals.

• Hormonal Exposure: Exposure to androgens or substances that increase androgen production during pregnancy can influence the development of female genitals. This can include certain medications or imbalances in the mother's hormone levels.

• Tumors: In very rare cases, tumors in the pregnant person can produce hormones that interfere with normal development.

Specific Causes in Genetic Males:

• Problems with Testicle Development: Issues with how the testicles develop, sometimes due to genetic changes or unknown reasons, can lead to atypical genitalia.

• Androgen Insensitivity Syndrome (AIS): In this condition, the body's tissues don't respond normally to the androgens produced by the testicles, preventing the development of typical male genitals.

• Testicle or Testosterone Problems: Various issues can affect the testicles' function, including their ability to form correctly or produce sufficient testosterone. This can also involve problems with the proteins that allow cells to respond to testosterone.

• 5-alpha-Reductase Deficiency: A lack of this enzyme can interfere with the production of hormones critical for the development of male genitals.

It's crucial to remember that these are just some of the potential causes. Medical professionals use a range of tests and evaluations to determine the specific reason for atypical genitalia in each individual case.

A family history of certain conditions can increase the chance of a child having atypical genitalia. This is because some differences in sex development are linked to genes that can be inherited from parents. If there's a history of these issues in your family, it's important to discuss it with your doctor.

Several factors might signal a potential genetic link and increase the risk of atypical genitalia. These include:

• Unexpected deaths of infants: If there's a pattern of unexplained deaths in early childhood in your family, it could be a warning sign.
• Reproductive problems in females: Problems like infertility, irregular menstrual cycles, or excessive facial hair in women can be signs of underlying genetic issues.
• Atypical genitalia in family members: If other family members have been diagnosed with differences in genital development, the risk is higher.
• Unusual physical changes during puberty: Differences in how the body develops during puberty might indicate a genetic predisposition.
• Congenital adrenal hyperplasia (CAH): CAH is a group of inherited conditions that affect the adrenal glands. If there's a history of CAH in your family, it's crucial to understand the possible implications for future pregnancies.

If you have a family history of any of these factors, it's wise to talk to your doctor before trying to have children. Genetic counseling can be very helpful in understanding your family's history and planning for the future. This information can help you and your doctor make informed decisions about your health and family planning.

People born with atypical genitalia might face some health challenges. These challenges can vary greatly depending on the specific condition.

One potential issue is infertility. Whether or not someone with atypical genitalia can have children depends entirely on the particular reason for their anatomy. For instance, women with a condition called congenital adrenal hyperplasia (CAH) can often become pregnant if they wish to. However, other conditions related to atypical genitalia can make it harder or impossible to have children.

Another concern is an increased risk of certain cancers. Some types of differences in sex development are associated with a higher chance of developing specific cancers. It's crucial to understand that this risk isn't universal and varies significantly based on the individual's specific condition. Further investigation and appropriate medical care are essential in these cases.

Babies sometimes have genitals that aren't typical. This can often be discovered at birth or shortly after. Sometimes, doctors might suspect it during pregnancy if blood tests and ultrasound results don't match. But usually, the diagnosis isn't made until after the baby is born. Doctors who deliver the baby might notice signs of atypical genitalia.

If a baby has atypical genitalia, doctors need to figure out why. This helps decide on the best treatment and what to call the baby's sex. The process starts with questions about the family's health history. The baby will have a physical exam to check for testicles and look at the genitals.

To learn more, tests are often done:

• Blood tests: These measure hormone levels and check the baby's chromosomes. Chromosomes typically show XX (female) or XY (male). But sometimes, there are genetic changes that affect how the sex organs develop, which these tests can also find.
• Ultrasound: This uses sound waves to look at the pelvis and abdomen to see if testicles have descended, if there's a uterus or vagina, or other structures.
• X-rays with contrast: This gives a clearer picture of the pelvic and abdominal organs.
• Biopsy (sometimes): A small tissue sample might be taken from the reproductive organs through a minimally invasive surgery using small incisions and tiny cameras.

Doctors use all the information from these tests to decide on a sex for the baby. This decision considers the cause, the baby's genetic makeup, the physical anatomy, the potential for future reproduction and sexual function, the likely adult gender identity, and a conversation with the parents.

While some families might decide quickly, it's crucial to wait until all the tests are complete. Deciding on a baby's sex can be a complex and lengthy process. It's important for parents to know that a child's gender identity might change as they grow up.

Caring for a Child with Atypical Genitalia

The goal of treatment for a child with atypical genitalia is to support their long-term mental and social well-being. This includes helping them develop healthy sexual function and fertility, if possible. There's no one-size-fits-all approach; the best time to start treatment depends entirely on the child's individual situation.

Atypical genitalia is a less common but complex condition. It often requires a team of specialists to provide the best care. This team might include:

• Pediatricians: Doctors specializing in children's health.
• Neonatologists: Doctors specializing in newborns, especially those born prematurely or with medical conditions.
• Pediatric urologists: Doctors specializing in the urinary system of children.
• Pediatric general surgeons: Surgeons specializing in children's general surgery.
• Endocrinologists: Doctors specializing in hormones and their effects on the body.
• Medical geneticists: Doctors specializing in genetic conditions.
• Mental health professionals (psychologists, social workers): These professionals are crucial for emotional support and guidance for the child and family.

Hormonal treatments might be used to address hormonal imbalances. For example, a genetic girl with a slightly enlarged clitoris due to a condition like mild congenital adrenal hyperplasia might only need hormone therapy to regulate hormone levels.

Surgery may be an option for children with atypical genitalia. This surgery aims to:

• Maintain healthy sexual function: This is a primary goal, even if the external appearance of the genitals is different.
• Improve the appearance of the genitals: Surgery might be considered in some cases, but not always.

The decision to have surgery, and when, is highly individual. Some medical professionals recommend delaying surgery focused solely on appearance until the child is old enough to understand and participate in decisions about their gender identity.

Important Note: The internal sex organs often function normally despite the appearance of the external genitalia. For instance, in a girl, if the vagina is hidden beneath the skin, surgery could help with future sexual function. Similarly, surgery for a boy might involve reconstructing a partially formed penis to improve its appearance and function or positioning the testicles correctly.

Surgery can be successful, but sometimes repeat surgeries are necessary. Possible risks include issues with appearance or sexual function, such as difficulties with orgasm.

Ongoing medical care is essential for children with atypical genitalia, including regular checkups and screenings for potential complications, such as cancer, into adulthood.

Dealing with an unexpected diagnosis like this can be very stressful for parents. Mental health professionals can provide support and coping strategies. It's essential to ask your child's doctor for a referral to a mental health professional with experience in this area. Support groups, both online and in-person, can also be a valuable resource.

Your child may also benefit from ongoing counseling and may choose to participate in support groups as an adult.

The initial uncertainty about your newborn's sex can be very challenging. Your medical team will provide updates and information as quickly as possible, answer your questions, and discuss your child's health.

It's wise to postpone announcing the birth publicly until the tests are complete and you have a treatment plan from your medical team. Take time to process this information and discuss it with your family and friends when you feel ready.

When a baby is born with atypical genitalia, it can be a confusing and stressful time for parents. It's completely normal to feel worried about the future. Don't go through this alone. Talking to a mental health professional experienced in these situations can be incredibly helpful in managing these feelings. Ask your child's doctor for a referral. Joining a support group, whether in person or online, can also provide valuable emotional support and connection with others facing similar challenges. These groups can be beneficial for both parents and the child, who may also benefit from ongoing counseling throughout their life.

The uncertainty about your baby's sex can make a joyous occasion feel overwhelming. It's important to remember that you're not alone in this. Your medical team plays a crucial role in providing updates and answers to your questions about your child's health as quickly as possible. They can also help you create a plan for moving forward. Consider delaying any public announcements about the birth until you have completed the necessary medical evaluations and developed a plan with your medical team's guidance. This will give you time to process the information and develop a sense of calm before responding to questions from family and friends. Take the time you need to understand the situation and how it might impact your family.