Differences In Sex Development

Overview

Differences in sex development (DSD) is an umbrella term for a range of conditions in which a baby's sex development follows an unusual path. Sex development involves chromosomes (the packages of genetic information we inherit), hormones (chemical messengers), and the organs that make up the reproductive system. In DSD, one or more of these steps develops differently, so a person's chromosomes, internal organs, hormone levels, or genitals may not fit the typical pattern for a boy or a girl. Some people also use the word 'intersex'. DSD is not an illness in itself — it describes a natural variation that needs understanding, information and, in some cases, medical care.

DSD conditions as a whole are uncommon. Some specific forms are very rare, while a few are seen more often. Exact numbers vary depending on how broadly DSD is defined, so you may hear different figures. What matters most is that each person gets clear information and the right support for their particular situation.

DSD can affect anyone, in any family and any part of the world. It is present from before birth and is not caused by anything a parent did or did not do during pregnancy. It may be identified in a newborn, a child, a teenager, or an adult.

Symptoms

Common symptoms

• Genitals that do not look clearly typical for either a boy or a girl at birth
• A baby born with a urine opening that is not at the tip of the penis (called hypospadias)
• Testicles that have not come down into the scrotum, or a lump in the groin
• Labia (outer genital folds) that look joined together, or a clitoris that is larger than usual
• Puberty that arrives late, early, or in an unexpected way
• Being unable to have children (infertility) found during tests
• Hormone levels on a blood test that are outside the usual range
• A hernia in the groin area in a baby or child

Symptoms in children

• Genitals that a doctor notices are not clearly typical for a boy or a girl
• A groin or scrotum lump that comes and goes, or testicles that cannot be felt in the scrotum
• Repeated urinary infections or difficulty passing urine
• Puberty that does not start by the expected age, or that starts in an unexpected way
• Some children grow faster or slower than expected, or have particular patterns of growth
• In some forms, a baby may become very unwell with vomiting and dehydration — this needs emergency care

Symptoms in older adults

• Being unable to have a baby, discovered during fertility investigations
• Hormone blood tests that do not fit the expected pattern
• Puberty that was late, absent or unusual when the person was younger
• Never having had a period, or having very infrequent periods
• Questions about gender identity, or finding out about a DSD later in life after earlier medical records are reviewed

Causes

Main causes

• Differences in chromosomes — for example, an unusual number or mix of sex chromosomes, or a change (variant) in a gene involved in sex development
• Differences in how hormones are made — the body may not produce enough of a hormone, or may produce it but not respond to it in the usual way
• Differences in how the reproductive organs form before birth, including the genitals and the internal organs such as the testes, ovaries, womb or tubes
• In some conditions, enzyme differences mean the body handles hormones differently, which can affect salt and water balance as well as sex development

Risk factors

• DSD is present from before birth and usually happens without any clear trigger — it is not caused by anything the parents did or did not do
• Some forms are linked to a gene change that runs in families, so a family history may be relevant
• Most cases happen in families with no history at all
• Consanguinity (parents being close blood relatives) can raise the chance of some inherited conditions — your doctor or genetic counsellor can explain this if it applies to you

When to see a doctor

See a doctor urgently if:

• Your newborn baby looks seriously unwell, is sick repeatedly, will not feed, or is very sleepy
• Your baby or child cannot pass urine, or has a swollen, painful groin area
• You notice that your child's genitals do not look clearly typical for a boy or a girl — ask to be seen promptly, so a specialist can give you accurate information
• Your teenager has not started puberty by around age 14, or puberty seems to be going in an unexpected direction

Book a routine appointment if:

• You have questions about your child's development or your own body that you have been carrying for a while
• You or your child have not had a period by age 16, or periods are very infrequent
• You are trying for a baby without success, or you have questions about fertility
• You found out about a DSD in the past and would like to understand your records better or talk things through
• You or your child feel anxious, low or confused about sex development or gender

Diagnosis

A doctor will start by talking with you, examining your child or you, and asking about family history and development. If a DSD is possible, you will usually be referred to a specialist team — often including a children's hormone specialist, a geneticist, a surgeon, a radiologist and a psychologist. Diagnosis can take time, and that is normal. Unless your child is unwell, there is usually no need to rush decisions; gathering information first is the safest and kindest approach.

Tests that may be done

• A physical examination, including measuring growth and checking the genital area gently
• A karyotype test — a blood test that looks at the chromosomes
• Hormone blood tests, and sometimes urine tests, to see how the body is making and responding to hormones
• An ultrasound scan to look at the internal organs such as the kidneys, testes, ovaries or womb
• Sometimes a small sample of tissue (a biopsy) or a look inside with a thin camera, if the specialist team thinks it is needed
• Genetic testing (looking at genes in detail) to find the exact cause — this can take several weeks or months
• Hearing tests, because some DSD conditions are linked with hearing differences
• A psychological conversation to understand how you and your child are feeling and what support would help

What to expect at your appointment

You will likely meet several specialists, and information may come in stages rather than all at once. Ask for explanations in plain words, and ask for them to be written down. It is fine to bring someone with you, to take notes, and to ask the same question more than once. You can also ask for time alone to think before any decisions are made. A good team will welcome your questions and will not pressure you.

Treatment

Treatment depends entirely on which DSD condition a person has, how it affects their health, and what matters to them. Some people need no treatment at all. Others benefit from hormone support, surgery, fertility care, or psychological support. Good care is planned by a specialist team together with the person and their family, and it changes over time as the child grows and can take part in decisions.

Self-care at home

• Keep a simple written record of appointments, test results and questions, so nothing gets lost
• Ask for copies of letters and results in plain language
• Bring a trusted person with you to appointments if that helps
• Take time before agreeing to any treatment or surgery — there is usually no emergency unless your child is unwell
• Talk openly with your child in an age-appropriate way, so they grow up understanding their own body
• Ask your GP or specialist team about local support groups and counselling
• Look after your own wellbeing too — parenting a child with health questions can be stressful

Medical treatments

Broadly, care may include: hormone treatment prescribed by a specialist to support the body's natural development, for example to help puberty happen at the expected time or to keep hormone levels healthy; regular check-ups to monitor growth, blood pressure, salt and water balance, and bone health; medicine to keep salt and hormone levels safe in the forms of DSD that affect the adrenal glands; fertility advice and support, including ways to preserve fertility before certain treatments; and psychological support for the person and their family. Your specialist will explain the options for your particular situation, including the benefits and downsides of each. Never start or change any medicine without talking to your own doctor or pharmacist first.

When is surgery considered?

Surgery is only considered for some people and only for clear medical reasons, or after careful discussion about what the person wants. Some operations are needed to keep a child healthy — for example, bringing a testicle down into the scrotum, or opening a urine passage that is blocked. Other operations, such as surgery on the genitals for appearance, are more debated. Many specialist teams now recommend waiting until the young person is old enough to understand and take part in the decision, unless there is a health reason to act sooner. Ask for a full explanation of the reasons, the risks, the alternatives, and what happens if you decide to wait.

Living with this condition

Most of daily life is just ordinary life — school, work, friends, hobbies and family. Some people have regular check-ups, take hormone treatment, or need extra appointments around puberty. Others have no ongoing medical needs at all. A big part of living well is having clear information, a team you trust, and people around you who understand.

Lifestyle tips

• Keep up with routine appointments and blood tests, even when you feel well
• Tell your doctor or pharmacist about your condition before starting any new medicine
• Carry information about your condition, especially if it affects your adrenal glands, so any doctor treating you knows
• Choose how much to share with others — you do not owe anyone your medical history
• Connect with others who have similar experiences, through your specialist team or a support group
• Encourage your child to ask questions and to know that their body is theirs

Diet and exercise

There is no special diet for DSD in general. Eating a balanced diet and staying active are good for everyone's health. If your condition affects salt balance or blood pressure, your specialist may give specific advice about salt or fluid — follow that advice rather than general internet tips. Some people need extra calcium and vitamin D for bone health; ask your team whether this applies to you before taking supplements.

Mental health and emotional wellbeing

Being different in a way that is often misunderstood can be hard. Children may worry about being teased, teenagers may struggle with body image or identity, and parents may feel guilt, grief or confusion — all of these feelings are understandable and common. Anxiety and low mood are more likely when someone feels isolated or has had difficult medical experiences. These feelings can be treated, and talking helps. If you or your child feel low, hopeless, or think about harming yourselves, please reach out for crisis support straight away — contact your local emergency number or a crisis line in your country, or speak to your doctor urgently. You deserve support, and you are not alone.

Prevention

DSD cannot be prevented. It develops before birth and is not caused by anything a parent did, ate, or did not do during pregnancy. If a DSD runs in your family and you are planning a pregnancy, you can ask your doctor about genetic counselling to understand the chances and your options.

Screening programmes

There is no routine screening test for DSD. Some chromosome differences can be picked up during pregnancy through tests offered to all pregnant women, but these tests cannot detect every DSD. If a test during pregnancy raises a question, you will be offered specialist advice so you can understand what it does and does not mean. After birth, newborn examinations sometimes pick up differences, and these are followed up with specialist assessment.

Complications

If left untreated

• In some forms of DSD that affect the adrenal glands, a serious hormone imbalance can cause a life-threatening crisis, especially during illness — this is why early diagnosis and medicine matter
• Puberty may not happen at the expected time, or bone health may be affected if hormone levels stay low
• Some people may have reduced fertility, and options such as fertility preservation are best discussed early
• Urinary problems can occur in some conditions if the urine passage or kidneys are affected
• Without clear information and support, people can experience lasting distress, shame or confusion about their body
• Being treated without being involved in decisions can leave people feeling hurt or angry later in life

Long-term outlook

The outlook for people with a DSD is generally good. Many people are healthy, have satisfying relationships and live full lives. Where health needs exist, they can usually be managed well with a specialist team, hormone support and regular check-ups. The most important factors for a good outcome are early and accurate information, respectful care that includes the person in decisions, and strong emotional support for both the individual and their family.

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