General Medical Information

Congenital Adrenal Hyperplasia

Sarah E. Herbert

CAH is one of the most common types of sexual differentiation disorders. Due to a recessive genetic disorder that involves a defect in the biosynthesis of cortisol, it leads to overproduction of adrenal androgens and results in a type of female pseudohermaphroditism when the fetus is a 46,XX female. At birth, masculinized or indeterminate external genitalia are present; typically there is enlargement of the clitoris, partial fusion and rugation of the labioscrotal folds, and a urogenital sinus. Internally there are ovaries and normal müllerian duct structures.

Today these children are raised according to their chromosomal sex, although in the past some were mistakenly reared as males. Girls with this disorder have atypical gender role behaviors, showing more evidence of tomboyism than their female siblings. They prefer rough-and-tumble play and have an interest in boys’ toys, but gender identity has been consistent with the sex of rearing. This does not preclude, however, some concerns that adolescent girls with CAH express about their body image. There is some controversy about whether there is actually a higher prevalence of atypical sexual orientation in this group compared to the general population. There does appear to be a higher prevalence of homosexual and bisexual fantasies in the studies that have been done, but the data regarding actual sexual behavior are equivocal. Some studies show a higher prevalence of homosexual behavior than one would expect, but some do not. Adolescents with CAH showed evidence of delays in dating and sexual relations compared to a control group of girls with chronic illness. Several different authors evaluated the sexual functioning of adult women with this disorder. They usually defined sexual functioning as the ability to have comfortable vaginal intercourse. Research regarding orgasmic capability in CAH women who had surgical correction has rarely been undertaken. One small study that included nine patients who had the surgery as infants found that eight of the nine patients were orgasmic. CAH women appear to be less sexually active, with a substantial number not attempting intercourse. Of the ones who have attempted coitus, only 62% in one study were able to have comfortable intercourse. When studied as adults, CAH women more often were single and had fewer children than controls. The salt-wasting form of CAH, which leads to more significant virilization compared to the simple virilizing form of CAH, has been associated in some studies with more difficulties establishing intimate relationships and more unhappiness with regard to sex. Thus, the major issue of psychological importance to this group of patients appears to be the impact of masculinization on their body image and the effect of the disorder on their sexual functioning as adolescents and adults.

Traditionally, surgical correction of the enlarged clitoris was done early in the child’s life, and corrective surgery on the vagina or dilatation to enlarge an inadequately sized vagina was undertaken in the adolescent years. The practice of surgically altering the clitoris, particularly through clitorectomy or excision of sensitive clitoral tissue, has been criticized by intersex adults, individuals in the fields of gender studies and ethics, as well as individuals within the medical and surgical community. The impetus for this is related to impairment of sensitivity and orgasmic ability in women who have surgical correction of the clitoris. As noted, there is a significant lack of data on sexual functioning of these women as adults, yet recommendations for early surgical correction of the enlarged clitoris persist.

Intellectual impairment has not been associated with this condition when affected girls are compared to controls. In fact, prenatal exposure to androgens in these patients may be associated with enhancement in spatial relationships when they are compared to controls.