Differences in Sexual Development (DSD) Clinic

What Causes Differences in Sexual Development?

In many cases, the exact cause of a disorder of sexual development isn’t known. When it can be identified, causes may include genetic changes, issues with organ development during pregnancy, hormone imbalances or exposure to certain medications or hormones before birth.

Types of Differences in Sexual Development

There are many different types of DSDs, each affecting how a child’s reproductive organs, hormones or chromosomes develop. Some are identified at birth, while others may not appear until puberty.

Types of DSDs include:

• Hormone-related DSDs: These affect how the body makes or uses sex hormones, like testosterone or estrogen. They can change how a child’s genitals develop, how puberty happens and sometimes fertility. Examples include Congenital Adrenal Hyperplasia (CAH), Androgen Insensitivity Syndrome (AIS) and 5-Alpha Reductase Deficiency.
• Chromosome-related DSDs: These happen when there are changes in the number or structure of sex chromosomes (X and Y). They can affect reproductive organ development and hormone levels. Examples include Turner Syndrome (45,X) and Klinefelter Syndrome (47,XXY).
• Anatomical or structural DSDs: These involve differences in how reproductive organs form or look, either inside or outside the body. Some types are caused by changes in certain genes, such as WT1-related syndromes, which can affect the development of the kidneys and sex organs.

Some DSDs are well understood, while others are rare or unclassified. No matter the diagnosis, our team is here to guide you through testing, treatment options, long-term care and support tailored to your child’s needs.

DSD Symptoms

Individuals with differences of sexual development can experience a wide range of symptoms, which may include:

• Electrolyte imbalances
• Genitals that appear different than expected for a boy or girl, such as an underdeveloped penis or an enlarged clitoris
• Hormonal imbalances or adrenal gland issues
• Hypospadias (when the opening of the urethra isn’t at the tip of the penis)
• Missing or absent genitals at birth (such as aphallia or vaginal agenesis)
• Starting menstruation unusually early or late

Every child is unique. Some symptoms are noticed at birth, while others appear later, especially during puberty. Our team is here to help you understand what’s happening and what steps to take next.

DSD Treatments We Provide

Treatment for differences in sexual development depends on the type and severity of symptoms. Some children may need:

• Genetic testing to help confirm a diagnosis and guide care decisions.
• Hormone therapy to support puberty and prevent additional health issues.
• Surgical procedures to change the appearance or improve the function of the genitalia. Surgery is only recommended if there is a clear medical reason and many children don't need surgery at all.

In milder cases, no treatment may be needed at all.