46,XX testicular disorder of sex development

46,XX testicular disorder of sex development is a rare condition where people have male external genitalia. In many cases, the external appearance can range from typically male to ambiguous, meaning there may be some variation in how the genitalia appear. This condition is also associated with a lower than typical level of testosterone, a hormone that plays a vital role in male development. The condition is sometimes referred to by several names such as De la Chapelle syndrome, XX male syndrome, and Sry-positive among others. Although these names highlight the genetic aspects, the primary description focuses on the physical characteristics and hormone levels seen in people with this condition. This summary uses the information available from trusted sources such as the definition provided in medical references.

People with this condition typically have male external genitalia, which might appear normal or somewhat ambiguous. A key characteristic is testosterone deficiency, which means that the hormone levels may be lower than expected. Beyond these features, detailed information about other symptoms and signs is not available in the provided sources.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.