Disorders Of Sexual Development

Overview

Differences in sex development (DSD) is a group of conditions where a person's sex characteristics do not follow the usual male or female pattern. Sex characteristics include chromosomes (the thread-like instructions in our cells), sex glands (testes or ovaries), hormones (chemical messengers), and the genitals (the outer sex organs). A DSD is present from before birth. It is not caused by how someone is raised, and it is not the same as gender identity (how a person feels about being male, female, or another gender). Some people prefer the term differences in sex development; others use disorders of sex development.

DSD is uncommon. Some types are very rare. Because there are many types and some are not obvious, the exact number is not known.

DSD can affect anyone, in any family and any part of the world. Some types run in families. Many happen without any family history. It can be noticed at birth, in childhood, during the teen years, or in adulthood.

Symptoms

Common symptoms

• Genitals that look different from the usual male or female appearance at birth
• Undescended testes (testicles that have not moved down into the scrotum)
• A groin hernia (a bulge in the groin) in a baby or child
• Puberty that starts early, late, or does not follow the expected pattern
• Hormone levels that are unusual on blood tests
• Trouble getting pregnant or fathering a child
• For some types, health problems such as vomiting, dehydration, or low blood pressure in a newborn

Symptoms in children

• Genital differences seen at birth or during baby checks
• A bulge in the groin or scrotum
• Undescended testes
• Growth or puberty that differs from peers
• Repeated vomiting or poor feeding in a newborn, which needs urgent care

Symptoms in older adults

• Many people with DSD are diagnosed earlier in life
• Possible fertility concerns
• Puberty that was delayed or different
• Hormone-related health needs, such as bone health
• Emotional or identity questions that may come up later

Causes

Main causes

• Changes in genes or chromosomes that affect how sex develops
• Problems with how the body makes or responds to sex hormones
• Differences in how the sex glands (testes or ovaries) form
• Enzyme problems, such as congenital adrenal hyperplasia (CAH), which affects hormone production
• Some cases have no clear cause found, even after tests

Risk factors

• A family history of a DSD or a related genetic condition
• Some genetic conditions are more likely when parents are closely related, but most DSDs happen without this
• Most of the time, there is no known risk factor and nothing could have been done to prevent it

When to see a doctor

See a doctor urgently if:

• Your baby has genitals that do not look clearly male or female
• Your newborn is vomiting, very sleepy, weak, or not feeding
• There is a painful lump or swelling in the groin
• Puberty has not started by the expected age, or it starts very early
• You have severe pain in the pelvis or abdomen

Book a routine appointment if:

• You have questions about your child's genital development
• You are worried about growth, puberty, or fertility
• You have a family history of DSD and want to talk about family planning
• You feel anxious or distressed about your body or your child's health

Diagnosis

A doctor will ask about health, growth, and family history, and examine the body. They may refer you to a specialist team. Tests look at chromosomes, hormones, and how the internal organs are formed. The team will explain what they find and what it means. Diagnosis can take time, and sometimes no exact cause is found.

Tests that may be done

• Physical exam, including checking the genitals and groin
• Karyotype: a blood test that looks at chromosomes
• Hormone blood tests
• Ultrasound or MRI scans to see internal organs
• Genetic testing
• Sometimes a small tissue sample (biopsy) is needed

What to expect at your appointment

You may meet several specialists, such as a children's doctor, hormone specialist, geneticist, surgeon, and psychologist. They should explain each step in plain words. You can ask for time to think and for a second opinion. Decisions about tests and care are made with you, not for you.

Treatment

Care is planned for each person. It depends on the type of DSD, the person's age, health, and wishes. The goal is to support healthy growth, puberty, fertility where possible, and emotional well-being. A team approach works best.

Self-care at home

• Keep all appointments with your care team
• Write down your questions before visits and ask for clear answers
• Track growth, puberty changes, and how you feel
• Ask for emotional support for yourself and your family
• Talk with your school or workplace if you need adjustments or privacy
• Connect with trusted support groups suggested by your care team

Medical treatments

Treatment may include hormone therapy to support puberty, replace hormones the body does not make, or support bone health. Hormones are medicines, and they are started and monitored by a specialist. Other care may include psychological support, fertility counseling, and help with any health problems linked to the DSD. No single treatment fits everyone.

When is surgery considered?

Surgery is not routine for DSD. It may be considered for a medical need, such as a hernia or an undescended testicle, or for genital differences. Surgery for genital appearance is a sensitive choice. Guidelines advise careful discussion, and many teams delay such surgery until the person can take part in the decision, unless it is needed for health. Ask your team about the benefits, risks, and timing.

Living with this condition

Living with a DSD can mean regular check-ups, taking hormones as prescribed, and managing privacy. Many people live full, active lives. It can help to have one trusted doctor who coordinates your care and explains things clearly.

Lifestyle tips

• Keep a simple health record of appointments, tests, and treatments
• Get regular sleep and stay active
• Avoid smoking and limit alcohol
• Build a support network of family, friends, or a counselor
• Plan ahead for school, work, or travel so medicines and appointments are not missed

Diet and exercise

There is no special diet for DSD. Eat a balanced diet and stay active for general health. Some hormone treatments and some types of DSD can affect bone health, so ask your team whether you need any extra nutrients and what exercise is right for you.

Mental health and emotional wellbeing

A DSD can bring up strong feelings for the person and their family. You may feel anxious, confused, angry, or worried about privacy, identity, or fertility. These feelings are common and deserve support. Talking to a counselor or psychologist who understands DSD can help. If you or someone you know is in crisis or having thoughts of self-harm, contact your local emergency number or a local crisis service right away.

Prevention

Most DSDs cannot be prevented. They happen because of genetic or hormone differences that are present before birth. If you have a family history of DSD, you can talk to a genetic counselor about family planning and testing options.

Vaccines

There is no vaccine for DSD. Keep up with routine vaccines for general health.

Screening programmes

There is no routine screening for DSD. A newborn physical exam checks the genitals and groin. If there is a concern, the baby is referred for specialist tests. Some families with a known genetic condition may be offered testing before or during pregnancy.

Complications

If left untreated

• A newborn with a hormone problem such as CAH can have a life-threatening adrenal crisis without urgent treatment
• Delayed or missing puberty can affect growth and bone health
• Fertility problems may go unaddressed
• Some types raise the risk of testicular cancer, so monitoring matters
• Emotional distress, shame, or isolation can grow without support

Long-term outlook

With the right care team, most people with a DSD can live healthy, full lives. Care is improving all the time. Early support, clear information, and respect for the person's wishes make a real difference.

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