This usually means the name of a cause of a DSD (for instance, “congenital adrenal hyperplasia” or "complete androgen insensitivity syndrome”). Doctors decide on a diagnosis by considering the signs and symptoms, the family history, and the results of various tests. In many cases, it is not possible to arrive at a definite cause. In that case, doctors may use a descriptive word, like “ambiguous genitalia” for the diagnosis.

Dihydrotestosterone (DHT) is an androgen (male sex hormone) produced by converting testosterone into dihydrotestosterone. DHT is an important factor in the development of male genitalia before birth.

When a less common path of sex development is taken, the condition is often called a “disorder of sex development” or DSD. DSDs happen in animals as well as humans.

Disorders of Sex Development (DSD) is defined by the 2006 “Consensus Statement on Intersex Disorders” as “congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical.” The definitions of such older terms such as “hermaphrodite” and "“intersex” were considered problematic because of a lack of consensus on definitions and because they labeled persons (rather than conditions). Further, they implicitly labeled patients with a gender, and one that was frequently inappropriate because incongruent with the patient's assigned or experienced gender. Synonyms: DSD