Key points in the management of disorders of sex development (DSDs)

Condition analysis:
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.

Instructions:
Key points in the management of disorders of sex development (DSDs) include the following:
Infants born with ambiguous or abnormal genitalia may have indeterminate phenotypic sex

DSDs, formerly termed intersex conditions, are classified on the basis of genetics and the state of the gonads

DSDs may be caused by virilization of a child with 46,XX or undervirilization of a child with 46,XY

Some individuals with DSDs have genetic mosaicism and may have abnormal gonads (streak ovary, ovotestis, dysgenetic testis).

Congenital adrenal hyperplasia (CAH) is the most common cause of DSD
The incidence of CAH is 1 in 15,000

The most common cause of CAH is 21-hydroxlase deficiency resulting in virilization of a child with 46,XX

Prompt diagnosis of the underlying cause of DSD is essential; 75% of those with 21-hydroxlase deficiency have salt-wasting nephropathy

Gender identity is not necessarily the same as phenotypic or chromosomal sex