Differences in sex development

Overview

Differences in sex development, or DSD (previously called intersex), encompasses a range of conditions involving abnormal development of sex organs and ambiguous genitalia (external genital organs that aren’t clearly male or female).

The cause of DSD is often unknown. Sex organ development is a complex, multistep process, and an error in any step can result in DSD. Abnormalities in chromosomes or in hormone production and activity may also play roles. The most common cause of atypical genitalia in genetic females is an abnormality in the adrenal glands that results in overproduction of male hormones.

At UCSF, we offer specialized care for children with DSD and for their families in our Differences in Sex Development Clinic, which brings together experts in pediatric urology, pediatric endocrinology, reproductive endocrinology, genetics, child psychology, social work, nursing and other relevant fields.

Signs & symptoms

DSD encompasses a range of conditions that may manifest in different ways. Possible signs include:

• External genital organs that don’t appear specifically male or female
• In genetic females, onset of menstruation at an unusual age
• Hormonal deficiencies or electrolyte imbalances
• In genetic males, severe hypospadias (when the opening of the urethra is located somewhere other than the tip of the penis) with undescended testicles (one or both)

Diagnosis

In most cases, we know that a child has a difference in sex development by looking at the genitals. In other cases, it's less clear. Most children are diagnosed at birth, but sometimes the condition isn’t detected until adolescence.

DSD covers a range of conditions, so making a diagnosis requires several tests. The results can shed light on the most appropriate gender to assign your baby. The process may include:

• A thorough physical exam of external genitalia
• Imaging tests (such as MRI, cystogram and ultrasound) of internal reproductive organs
• Blood tests that provide information on chromosomes and hormone levels

Treatment

Treatment depends on the condition we diagnose. Some children need surgery to prevent medical problems. Some children require lifelong hormone or electrolyte supplements. Our team’s role is to support the child and family through the process of gender assignment and medical care.