Bone mass in androgen-insensitivity syndrome: response to hormonal replacement therapy

The response of bone mass to long-term treatment with estrogen and progesterone in patients with complete androgen-insensitivity syndrome (AIS) is unknown. We report a 17-year-old female patient (karyotype 46 X, Y) with AIS studied during a 4-year period. Bone mineral density (BMD) measured by dual X-ray absorptiometry in lumbar spine and proximal femur was sharply reduced at the initial visit; and remained unchanged during long-term follow-up on hormone replacement therapy with estrogens and progestin. Bone metabolism markers were all in the normal range. The lack of significant increase in BMD highlights the importance of androgens on bone physiology that cannot be balanced in spite of an appropriate estrogenic milieu.