Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency after glucocorticoid treatment since infancy

Aim: To study bone mass, body composition and androgenic/anabolic activity in adult women with virilizing congenital adrenal hyperplasia (CAH) treated with glucocorticoids since infancy and to relate this to the postmenarchea l glucocorticoid impact. Patients and methods: Thirteen adult women with vi rilizing CAH treated with gluco- and mineralocorticoids but otherwise medic ine-free were investigated with respect to bone mineral content, body compo sition by dual energy X-ray absorptiometry and endocrine status. In additio n an index of accumulated postmenarcheal exogenous glucocorticoid impact wa s calculated. Seven of the patients had regular menstrual periods, and six were oligomenorrheic but responded with withdrawal bleedings on cyclic prog estagens. The data for the patients were compared with those of age-matched healthy reference subjects. Results: In spite of their shorter stature, CAW patients were significantly heavier and had a significantly higher body mass index and fat/lean body m ass ratio than the controls. Their bone mineral area density (BMD) was sign ificantly lower than that of the controls. Serum concentrations of androgen s were subnormal in all except two of the patients. Strong negative associa tions were found between BMD and the calculated index of accumulated postme narcheal glucocorticoid dose but not between BMD and circulating androgen l evels. Conclusion: The results indicate that glucocorticoids were administered in excess in most of the patients, resulting in subnormal levels of adrenocort ical androgens, increased body fat and bone demineralization. Increased cat abolic activity due to hypercortisolism rather than decreased androgenic/an abolic steroids is probably the major cause of the subnormal BMD in the tre ated CAH patients.