OSTEOPENIA AS A FEATURE OF THE ANDROGEN INSENSITIVITY SYNDROME

OBJECTIVE The syndrome of androgen insensitivity, a paradigm of a horm one resistance syndrome, manifests as failure of masculinization despi te normal or high concentrations of serum testosterone. The defect in these 46 XY patients resides in the androgen receptor gene, with conse quent defective androgen action and abnormal sexual differentiation. W e sought to evaluate whether the adverse sequelae of androgen resistan ce may extend to skeletal tissue by measuring bone mineral density in six patients with androgen insensitivity, DESIGN A cross-sectional ret rospective study, MEASUREMENTS Bone mineral density was measured by me ans of a Dexa (Hologic QDR 1000 scanner), The diagnosis of androgen in sensitivity was confirmed in each patient by karyotype and assay of se x hormones, RESULTS The five adult patients with androgen insensitivit y had been exposed to both defective androgen action and variable peri ods of oestrogen deficiency. The latter resulted from the low circulat ing oestrogen concentrations (for premenopausal females) before gonade ctomy and inadequate oestrogen replacement after gonadectomy, All five adults with androgen insensitivity had osteopenia in both the lumbar spine (T-score -1.52 to -3.85) and femoral neck (T-score -1.34 to -4.9 1), CONCLUSIONS Osteopenia in patients with androgen insensitivity may relate to defective androgen action, oestrogen deficiency or a combin ation of the two, These observations have implications for the managem ent of patients with androgen insensitivity and may provide insight in to the effects of androgens on the female as well as the male skeleton .