Commonly Treated Conditions
Older terminology for disorders of sexual differentiation (DSDs) where the external genitals are not what is normally expected for a boy or girl.
Congenital adrenal hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) refers to a group of inherited disorders of the adrenal glands which are located above the kidneys. The main feature is a block in production of stress hormones.
The most common form of CAH is called 21 hydroxylase deficiency. Patients with this disorder do not make enough of the stress hormone called cortisol. Some patients also have problems with dehydration. Girls with this disorder make too much of the male hormone called testosterone. This can make girls'genitals look masculine. Males with CAH do not have any genital problems.
This disorder can be life-threatening. Treatment involves life-long replacement of the missing adrenal hormones.
Girls who are assigned the female gender have fewer problems with identifying themselves as a girl later in life. Fertility is nearly normal in both boys and girls.
Surgery is sometimes required to separate the vagina from the urethra.
Older terminology for disorders of sexual differentiation (DSDs) where the internal sex organs are not what is normally expected for a boy or girl.
Mixed gonadal dysgenesis
Mixed-gonadal dysgenesis (MGD) is a rare condition in which there is usually a normal gonad (testis or ovary) on one side and an abnormal gonad or "streak" on the other side. The condition has been associated with a variety of chromosomal combinations where some cells may have normal numbers, where others may have too few or too many of the "sex" chromosomes. The physical appearance of the genitalia is variable ranging from normal boy to normal girl, or sometimes somewhere in between. Gender assignment with MGD is individualized and multiple factors are taken into consideration. Treatment often includes early surgery to remove streak gonads to prevent tumors, surgical reconstruction, and sometimes later hormone replacement therapy.
Vaginal agenesis/Mayer-von-Rokitansky-Kuster-Hauser's syndrom (MRKH)
This syndrome is a condition where the internal female sexual organs do not develop normally, but it can also be associated with abnormal development of other organs in the body.
These are a group of disorders where the bladder, bowel and sexual organs do not separate normally. These are quite variable, but often require surgical reconstruction.
Ovotesticular DSD is a rare condition where there are both ovaries and testes present, sometimes even combined in the same gonad. Previously, the syndrome was referred to as true hermaphroditism. The condition is also associated with a variety of chromosomal combinations, including normal male (46-XY), normal female (46-XX), or a mixture of the two. The physical appearance of the genitalia can be anywhere on the spectrum from normal male to normal female, or somewhere in between.
Gender assignment with Ovotesticular DSD is very individualized. There is potential for fertility, but gonads that do not match the gender chosen can cause hormonal problems and possibly carry a risk of tumor development. Biopsy of the gonads is usually necessary for diagnosis. Hormonal replacement therapy may be required at puberty, and surgical reconstruction is generally undertaken at some point.