Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: A meta-analysis

Objective: To investigate adult heights attained by patients with 21-hydrox ylase deficiency and to perform a meta-analysis of height outcomes reported in this population. Study design: A retrospective chart review of our patients >5 years of age (n = 65) who were followed up from 1978 to 1998 for 21-hydroxylase deficien cy was conducted. Final height (FH) SD scores and target height (TH) SD sco res were determined. The impact of sex, time of diagnosis, and compliance w as assessed. Meta-analysis of results from 18 studies was performed; TH was available for 204 of 561 patients. Results: Mean FH SD score-TH SD score for our 65 patients was -1.03. For th e meta-analysis, mean weighted FH SD score for all 561 patients was -1.37 w hereas weighted mean FH SD score-TH SD score for the 204 patients for whom TH was available was -1.21. No difference in outcome was seen for males com pared with females, although a statistically significant difference was see n for patients identified early versus late. Conclusions: Adult height in patients with 21-hydroxylase deficiency is oft en within 1 SD of TH. Early diagnosis and good compliance appear to improve the outcome. Rather than pursuing alternate therapies for congenital adren al hyperplasia, efforts may instead be focused on early detection and impro ved compliance with traditional medical therapy.