Overview
DSDs are medical conditions involving the way the reproductive system develops from infancy (and before birth) through young adulthood. There are several types of DSDs and their effect on the external and internal reproductive organs varies greatly.
The medical adjective for people with DSDs is "intersex," which means that technically their bodies are not entirely male, nor entirely female. Nevertheless, most intersex people think of themselves as completely being either boys/men, or girls/women. For this reason, parents with DSD children and clinicians involved in DSD treatment usually try to make clear distinctions between biological sex, social gender, and sexual orientation. This helps clear up any lingering confusion about the differences between being intersex, being transgender, and being gay/lesbian.
The most common DSD is Congenital Adrenal Hyperplasia (CAH), which results in a person with female (XX) chromosomes having genitals that look somewhat masculine. In mild cases CAH results in a slightly enlarged clitoris, while in more severe cases it can be difficult to decide (just by looking) whether a baby is male or female (this is called having ambiguous genitals). Nevertheless, if they are old enough to know the difference, most children with CAH think of themselves as girls. CAH is caused by a problem with the adrenal glands and is usually treated by taking a daily medication to replace or supplement the missing adrenal hormones. (When this adrenal problem occurs in people with male (XY) chromosomes, the result is over-masculinization and premature puberty).
Another common DSD is Androgen Insensitivity Syndrome (AIS), which means that a person with male (XY) chromosomes does not respond to testosterone in the usual way. This results in a body that to some degree has a feminine appearance. In Complete Androgen Insensitivity Syndrome (CAIS) the result is a totally feminine appearance, including typical female breast development. Consequently, most young women with CAIS are unaware of their condition until the early teen years when they fail to menstruate. In the milder form, called Partial Androgen Insensitivity Syndrome (PAIS), the genitals can vary from mostly female to almost completely male. Some people with PAIS think of themselves as girls/women, while others regard themselves as boys/men. Some people with PAIS take hormones and/or undergo surgery to give the genitals a more ordinary appearance. In the past such surgeries were often performed in infancy, but in recent years the tendency has been to postpone surgery until the child has expressed a clear gender preference and is old enough to participate actively in decisions about his/her medical treatment.
One of the more unusual DSDs is 5-Alpha Reductase Deficiency (5ARD), popularly known as "Penis at 12." It is caused by a shortage early in life of an enzyme that activates testosterone. In this condition, a person with male (XY) chromosomes has a body that appears female before puberty. After puberty begins, other testosterone-activating enzymes become available and the body soon takes on a masculine appearance, with the scrotum and penis usually reaching typical or nearly-typical size. If 5ARD is diagnosed at a young age, the child is generally raised as a boy, since the vast majority of adults with this condition consider themselves men.
In addition to CAH, CAIS, PAIS, and 5ARD there are several rarer types of DSDs, and in some cases it is not possible to make a clear diagnosis of the underlying condition.
The penis and clitoris are essentially the same organ (differing only in size, and generically called the phallus). In typical males, the urethra is located at the tip of the penis, while in typical females the urethra is located below the base of the clitoris. When the phallus is of intermediate size, it is possible also to have a urethral opening located along the shaft; this condition is known as hypospadia.
In the past the term "hermaphrodite" was sometimes erroneously used to describe intersex people. This term is no longer used to describe humans (or any other mammals). The correct technical definition of a hermaphrodite is a single organism that has complete sets of both male and female sexual organs, as is the case with most trees and flowering plants.
Open-minded parenting and age-appropriate child involvement in the treatment plan contribute greatly to successful outcomes for the entire range of DSDs.
Read more about this topic: Disorders Of Sex Development