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Disorders of sex development



Disorders of sex development, or DSD (previously called intersex), includes a range of conditions that lead to abnormal development of the sex organs and atypical genitalia — genitalia that is not clearly male or female.

Often, the cause of DSD is unknown. The development of sex organs is a very complex process comprised of many steps, and errors in any of these steps can result in DSD. Abnormalities in the chromosomes, or in the production and activity of hormones, may also play a role. The most common cause of atypical genitalia is an abnormality in the hormone-producing adrenal glands, which can cause females to develop male characteristics.

At UCSF, children with DSD are cared for in the Disorders of Sex Development Clinic. This clinic brings together experts from many fields — pediatric urology, pediatric endocrinology, reproductive endocrinology, genetics, child psychology, social work and nursing — to provide comprehensive, specialized care for children and their families.

Signs & symptoms

Disorders of sex development include a range of conditions that may manifest in different ways. Some of the signs include:

  • Genitalia that doesn't appear specifically male or female
  • Onset of menstruation at unusual age
  • Hormonal deficiencies or electrolyte imbalances
  • Severe hypospadias — meaning the opening of the penis is located somewhere other than the tip — with two undescended testicles and/or one undescended testis.


In most cases, it's clear that a child has a disorder of sex development by looking at the genitals. In other cases, it's not so simple to identify. Most children are diagnosed at birth, but sometimes the condition is not detected until adolescence.

Because disorders of sex development include a range of conditions, your child will need to undergo several tests so we can make a diagnosis and to help determine the best gender to assign your baby. These may include:

  • A thorough physical exam of external genitalia
  • Imaging tests of the internal organs, such as MRI, cystogram and ultrasound
  • Blood tests to evaluate your child's chromosomes and hormone levels


Treatment varies depending on your child's diagnosis. Some children need surgery to prevent medical problems while others do not. Some children require life-long hormone or electrolyte supplements. Gender is not assigned by the medical team but by the individual. The team's role is to support the child and family.

UCSF Benioff Children's Hospitals medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your child's doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your child's provider.

Where to get care (1)


Disorders of Sex Development (DSD) Clinic

Disorders of Sex Development (DSD) Clinic

1825 Fourth St., Fifth Floor, 5B
San Francisco, CA 94158

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    The Baskin Laboratory investigates the causes of pediatric urological diseases present at birth or acquired later. The lab's research has a special focus on curing and preventing hypospadias, in which the urethra's opening is on the underside of the penis.

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