Bone mineral status in Egyptian children with classic congenital adrenal hyperplasia. A single-center study from Upper Egypt.

AIM OF THE STUDY: To evaluate bone mineral density (BMD) and levels of bone turnover markers in Egyptian children with classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency and its relationship with disease-related variables.

PATIENTS AND METHODS: The study population consisted of 28 children from Upper Egypt with classic CAH, their mean age 8.3 ± 2.4 years and 28 age and sex matched healthy control. They were subjected to measurement of BMD of lumbar spines (L1-L4) and femoral neck using dual-energy-X-ray absorptiometry (DXA) and laboratory evaluation of bone turnover markers including Osteocalcin and serum receptor activator of nuclear factor κB-ligand (RANKL).

RESULT: Children with CAH had significantly lower bone-mineral density (BMD) for both, vertebrae and femoral neck than controls. This difference is more obvious in children with poor control and in those receiving prednisone therapy. There was a significantly lower serum osteocalcin, and significantly higher serum RANKL levels in patients with CAH than the healthy controls. This differences is more obvious in children with poor control and in those receiving prednisone therapy. Total bone mineral content (BMC [gm]) have significant negative correlations to age (r = -0.81, P < 0.001), disease duration (r = -0.881, P < 0.001), 17 OH Progesterone level (r = -0.543, P < 0.05), RANKL level (r = -0.635, P < 0.05), and significant positive correlation with osteocalcin (r = 0.576, P < 0.001).

CONCLUSIONS: Children from Upper Egypt with classic CAH may have reduced BMD and increase bone turnover compared with controls. This difference is more obvious in children with poor control and in those receiving prednisone therapy.

RECOMMENDATIONS: Active monitoring of BMD in CAH children using Dual-energy X-ray absorptiometry (DEXA) scanning. Furthermore, effort should be done to bring hydrocortisone to Upper Egypt to replace prednisone in children with classic congenital adrenal hyperplasia.