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. Methodology The records of 89 patients with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency managed in a children's hospital in Australia over a period of 25 years were reviewed. Results The diagnosis was made in infancy in 66 patients (37 males and 29 females) and later in 23 (11 males and 12 females). The mean age for genitoplasty in females with ambiguous genitalia was 18 months before 1984 and 3 months thereafter. Significant differences were found between males and females presenting after infancy with regard to virilization, bone age advancement, risk of true precocious puberty and final height. The mean final 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 control in ensuring a good outcome for patients with 21‐hydroxylase deficiency.