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Disorders of Sexual Development (DSDs)

Disorders of sexual development are conditions where a person’s reproductive organs and genitals are “mismatched” at birth. Examples include male chromosomes (XY) and genitalia that appears female (vulva) or female chromosomes (XX) and genitalia that appears male (penis). Some people with DSDs have characteristics of both sexes.

Overview

What are disorders of sexual development (DSDs)?

Disorders of sexual development (DSDs) are a range of conditions in which a person has characteristics of both sexes. These characteristics can happen due to chromosomal, gonadal (ovaries or testes) or genital differences — and they can appear at birth, during puberty or later in adulthood. Examples include people born with:

  • Male (XY) chromosomes but genitals that appear female (vulva).
  • Female (XX) chromosomes but genitals that appear male (penis or enlarged clitoris).
  • Both ovarian and testicular tissue. This can cause the genitals to appear male, female or a mixture of both.
  • Typical sex organs but an abnormal chromosome arrangement. This can disrupt growth and development during puberty.

Healthcare providers used to call DSDs “intersex” conditions. Intersex refers to people who have chromosomes, genitals or reproductive organs that don’t fit into the male/female sex binary. Some people with DSDs still embrace the term as an aspect of their gender identity. But people who feel strongly male or strongly female may choose not to use it.

Some people with DSDs prefer the term “differentiation” rather than “disorder.” Having a DSD doesn’t mean there’s something “wrong” with you. It just means you developed differently from your peers. Most people with DSDs live normal lives with proper diagnosis and treatment.

Types of DSDs

“Disorders of sexual development” is an umbrella term that describes a group of nearly 60 different conditions. Some of the most common include:

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Symptoms and Causes

What are the symptoms of DSDs?

People with DSDs can develop a variety of symptoms, which may include:

What causes disorders of sexual development?

There are many reasons why a person might be born with a DSD. Possible causes are:

  • Genetic mutations (changes). These include inherited mutations (passed from biological parent to child) and spontaneous mutations (changes that occur for no known reason).
  • Developmental issues during fetal development. This can happen when organs don’t form correctly.
  • Hormone insufficiency. This is when a baby either doesn’t make enough hormones or doesn’t respond to them as expected. It can also occur when another factor prevents hormone production (like a lack of blood flow to the testes or ovaries).
  • Exposure to certain hormones or medications during pregnancy. This may include things like testosterone blockers.

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What are the complications of DSDs?

Not everyone with a DSD will experience health complications. But some people have a higher risk of developing certain issues like:

Diagnosis and Tests

How are DSDs diagnosed?

In some cases, healthcare providers can diagnose DSDs at birth. Other types of DSDs aren’t obvious until puberty or later in adulthood.

A provider will start with a physical examination. They may also ask to run additional tests like:

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Management and Treatment

How are DSDs treated?

Depending on the severity of symptoms, a person with a DSD might need:

  • Hormone replacement therapy to induce puberty and reduce the risk of DSD-related health issues like osteoporosis.
  • Reconstructive surgery to change the appearance of the genitals. Unless it’s medically necessary, healthcare providers usually postpone irreversible procedures (like genital surgery) until children are old enough to make their own informed decisions.

People with mild DSD symptoms may not need treatment at all.

Who treats disorders of sexual development?

If your child has a DSD, they’ll see several healthcare providers from a range of specialties. Members of your child’s medical team might include:

Prevention

Can DSDs be prevented?

You can’t prevent DSDs. There’s no way to know if there’s an issue causing a DSD, and there’s no way to control which gene mutations you might pass on to your child. It’s just something that happens.

Outlook / Prognosis

What’s the outlook for people with DSDs?

People with DSDs have an increased risk for several health conditions. But with diagnosis and treatment, they live just as long as people without DSDs.

My child has a DSD. How can I care for them?

Going through puberty is never easy. And for kids with DSDs, it could be the first time they’re realizing their bodies are different from those of their peers.

The best way to care for your child is to love them unconditionally. Here are a few ways to encourage them:

  • Talk openly with them about their DSD, the same way you’d talk about any other health condition.
  • Let them know what to expect during each appointment.
  • Encourage them to participate in hobbies and activities they enjoy.
  • Give them a safe space to freely explore their gender identity.
  • Find a counselor to help your child navigate complex emotions.

Living With

When should I call my child’s healthcare provider?

Providers diagnose many cases of DSDs at birth. But sometimes, symptoms aren’t apparent until puberty or adulthood. You should schedule an appointment with a healthcare provider as soon as you suspect something out of the ordinary. They can do a physical examination and run tests to see what’s causing your child’s symptoms.

What questions should I ask my child’s doctor?

If your child was born with a DSD, you may want to ask:

  • What condition does my child have?
  • Where can I learn more about the condition?
  • What treatments will they need?
  • Are there support groups available?

A note from Cleveland Clinic

A DSD diagnosis can come with complex emotions. On some level, you might feel relief because you finally have a name for your (or your child’s) symptoms. But it’s also normal to feel confused and uncertain about next steps. Your healthcare provider is the best person to talk to about how you’re feeling. They can recommend resources and tell you whether you need treatment.

Medically Reviewed

Last reviewed on 01/22/2024.

Learn more about the Health Library and our editorial process.

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