Increasingly, dexamethasone (DEX) is prescribed for the treatment of pregnant women who are likely to give birth to a girl with CAH. DEX is given to replace the cortisol, which the CAH fetus does not produce, and to thereby reduce the production of excess androgen. Dr. Maria New and others had already shown that successful DEX treatment will indeed reduce or eliminate the effect of excess androgens on genital development, which then reduces or eliminates the need for genital surgery later. We are now conducting two broad-band studies, in collaboration with Dr. Maria New at Weill Medical College of Cornell University in New York City, to see whether DEX-treated children with CAH differ in cognitive development, temperament, and general adjustment from DEX-unexposed children with CAH and from non-CAH control children. In the first study, mothers of approximately 500 children, ages 3 months to 12 years, completed a battery of age-appropriate questionnaires about their children. In the second study, 140 children, ages 5-12 years, underwent psychological tests, interviews, and behavior observations, and their mothers were also interviewed. Data collection in both studies is completed, and data analysis and peer review of the results is currently in progress.

2. Children with CAH compared to children without CAH

The two studies above will not only give us information about the effects of prenatal DEX, if any, but also information on behavioral differences between children with CAH and controls. In addition, we are currently collaborating with Dr. Catherine Hall and her colleagues in Manchester, U.K., in a psychological study contrasting girls with CAH to girls with diabetes mellitus, in order to separate the effects of a chronic hormonal condition and the associated medical care from those that are specific to CAH. Data from this study are also currently being analyzed.

While we have already learned quite a bit about the psychological outcome of children with CAH, especially girls, we know much less about what adult life with CAH looks like. Thus, again in collaboration with Dr. Maria New, we have embarked on a long-term follow-up study on adult women with CAH. Here, we are interested in long-term development in terms of education and occupation, partnerships, marriage, child-bearing/rearing, and general adjustment. In addition, we want to find answers for a number of specific questions. 1. How do the more severe forms of classical (prenatal-onset) CAH differ from the milder forms in psychological outcome? 2. How does the psychological outcome of classical (prenatal-onset) CAH differ from that of non-classical (postnatal-onset) CAH? 3. Does the specific molecular configuration of the 21-hydroxylase gene abnormality help us to predict psychological outcome? 4. How does the genital status at birth and subsequent genital surgery affect the quality of romantic/sexual life? We are nearing the end of data collection and data analysis has begun. We are also collaborating with Dr. Miroslav Dumic (Zagreb, Croatia) in a similar, but smaller study of CAH women in Croatia.