Bone mineral density and body composition in prepubertal and adolescent patients with the classical form of 21-hydroxylase deficiency.

ABSTRACT

OBJECTIVES: To evaluate bone mineral density (BMD) and body composition in prepubertal and adolescent patients with the classical form of 21-hydroxylase deficiency. MATERIAL AND METHOD: The authors measured height, weight and used dual energy x-ray absorptiometry (DEXA) to evaluate lumbar spine, whole body BMD and body composition in 10 prepubertal and adolescent patients with the classical form of 21-hydroxylase deficiency. Serum hormone concentrations (17-hydroxyprogesterone, dehydroepiandrosterone sulfate) were also measured. Results were compared with those of age- and sex-matched controls. RESULTS: Seven patients were adolescent (4 girls and 3 boys; age range, 9.0-19.6 years) and three patients were prepubertal. (2 girls and 1 boy; age range, 6.5-8.6 years). There were no significant differences in age, height z-score, weight z-score and body mass index between the patients with congenital adrenal hyperplasia (CAH) and controls. DEXA showed no differences between each group in whole body BMD, but showed significantly elevated areal regional BMD at the lumbar spine (L1-L4) in CAH patients. However four of the 10 CAH patients and 6 of the 10 controls had osteopenia. The BMD z-score at the lumbar spine was significantly correlated with increasing weight z-score in both CAH patients and controls. When CAH patients with osteopenia were compared with those with normal BMD, there was a trend toward lower weight z-score, higher dose of glucocorticoids and longer duration of treatment among the osteopenic patients, but it did not reach statistical significance. CONCLUSION: Classical 21-hydroxylase deficiency patients treated with long-term glucocorticoids did not have impaired bone mineral density compared with healthy, age and sex-matched controls. However, the reference data for BMD in the Thai pediatric population is lacking and the number of studied participants was limited so we need further studies.