Disorders of Sex Development

Disorders of sex development, or DSD, includes a range of conditions that lead to abnormal development of the sex organs and ambiguous genitalia — genitalia that is not clearly male or female. When a child is born with DSD, the gender may not be obvious. In other cases, however, the signs are very subtle and the condition is not diagnosed until later in life. Children with DSD often have both male and female characteristics internally as well as externally.

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.

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.

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

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 and ultrasound
  • A genitogram to assess internal genitalia, using X-rays and catheterization of any openings in the perineum (the tissue between the genitals and anus)
  • Blood tests to evaluate your child's chromosomes and hormone levels

Treatment varies depending on your child's diagnosis. Some children need surgery while others do not. Surgery may include reconstruction of the external genitalia or removal of abnormal sex organs or sex organs that do not match the sex of rearing. Some children require life-long hormone or electrolyte supplements.

We will discuss the best time to perform the surgery. In some cases, surgery can be done at any age. In other situations, surgery may be postponed until the child is old enough to express his or her wishes and to ensure healthy gender assignment.

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Reviewed by health care specialists at UCSF Benioff Children's Hospital.

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UCSF Clinics & Centers

Disorders of Sex Development Clinic
400 Parnassus Ave., Suite 610
San Francisco, CA 94143
Phone: (415) 353-2200
Fax: (415) 353-2480
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