Congenital adrenal hyperplasia, CAH

Congenital adrenal hyperplasia, CAH

CAH is an autosomal recessive inherited enzyme deficiency causing a lack of cortisol and aldosterone as well as an increased level of androgens. This affects 1 in 10 000 children every year and some get severe symptoms directly after birth. Girls will get virilised genitalia often before birth. Earlier studies have indicated a tomboy play-behaviour in girls with CAH that is also correlated to the severity of the mutation. We have performed a long-term follow up study in adult women with CAH concerning postoperative results, fertility and psychosexual and psychosocial issues including QoL. We found that choice of occupation and hobbies are more masculine than in controls and also correlated to the severity of the mutation, same as in children. We have shown a lower degree of fertility due to different causes, and that these women give birth to less boys than girls, the ”sex ratio” is 25:75. Finally we showed that voice characteristics are affected in women with CAH and that has not been investigated before.