ADRENAL 21-HYDROXYLASE DEFICIENCY IN CHILDHOOD - 25 YEARS EXPERIENCE

Objective: To review past and present management of congenital adrenal hyperplasia at a single centre, as a guide to best practice. Methodol ogy: The records of 89 patients with congenital adrenal hyperplasia du e to 21-hydroxylase deficiency managed in a children's hospital in Aus tralia over a period of 25 years were reviewed. Results: The diagnosis was made in infancy in 66 patients (37 males and 29 females) and late r in 23 (11 males and 12 females). The mean age for genitoplasty in fe males with ambiguous genitalia was 18 months before 1984 and 3 months thereafter. Significant differences were found between males and femal es presenting after infancy with regard to virilization, bone age adva ncement, risk of true precocious puberty and final height. The mean fi nal height standard deviation scores for seven males and seven females treated from infancy were -1.32 and -1.26, respectively. Conclusions: The results emphasize the importance of early diagnosis and good cont rol in ensuring a good outcome for patients with 21-hydroxylase defici ency.