46,XX testicular difference of sex development

46,XX testicular difference of sex development (DSD), also known as 46,XX male syndrome or de la Chapelle syndrome, is a rare condition in which a person has female chromosomes (46,XX) but develops male physical features, including testes. Normally, people with XX chromosomes develop as female, and those with XY chromosomes develop as male. In this condition, something changes during early development that causes male sex development despite having XX chromosomes. In most cases, a small piece of the Y chromosome carrying the SRY gene (the main gene that triggers male development) gets transferred onto one of the X chromosomes. However, in some cases, no SRY gene is found, and other genetic factors are responsible. Most individuals with this condition are raised as males and identify as male. They typically appear male on the outside, though they may have smaller testes than average. Common features include infertility, since the testes do not produce sperm, and low testosterone levels, which can lead to reduced body hair, breast enlargement (gynecomastia), and decreased muscle mass. Some individuals may also have ambiguous genitalia at birth, though this is more common in SRY-negative cases. The condition is usually discovered during puberty when expected male development does not fully occur, or in adulthood when a couple has difficulty conceiving. Treatment focuses on testosterone replacement therapy to support male secondary sexual characteristics and overall well-being. Surgical options may be considered for gynecomastia or genital differences. Fertility treatment options are very limited because sperm production is absent. Psychological support is an important part of care.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.Does my child (or do I) have the SRY gene, and what does that mean for my specific case?,When should testosterone replacement therapy be started, and what form is best?,What are the long-term side effects of testosterone therapy?,Are there any options for having biological children in the future?,Should I see a genetic counselor to understand the chances of this happening in other family members?,What psychological support services are available for people with this condition?,How often should hormone levels and bone density be monitored?

Common questions about 46,XX testicular difference of sex development

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