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This version published online on May 30, 2006
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2005-2809
A more recent version of this article appeared on August 1, 2006
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Submitted on December 22, 2005
Accepted on May 23, 2006

Bone mineral density in the Complete Androgen Insensitivity and 5{alpha}-Reductase-2 Deficiency syndromes

Vivian Sobel MD, Brian Schwartz MD, Yuan-Shan Zhu MD,PhD, Juan J Cordero MD, and Julianne Imperato-McGinley MD*

* To whom correspondence should be addressed. E-mail: jimperat{at}med.cornell.edu.

Context: Subjects with complete androgen insensitivity (CAI) and 5{alpha}-reductase-2 deficiency (5{alpha}RD-2) are natural human models to study the direct effect of androgens on bone mineral density (BMD).

Objective: To test the hypothesis that androgens have a direct effect on BMD in men.

Design: Prospective, observational study (1989-1999) using dual energy x-ray absorptiometry (DEXA).

Setting: Outpatient specialty referral center

Patients or other participants: All known subjects with these conditions (12 CAI and 16 5{alpha}RD-2) from diverse socio-demographic backgrounds, were recruited for the study.

Interventions: none

Main Outcome Measure: Mean Z score and weight-matched Z score at lumbar spine and femoral neck for CAI and 5{alpha}RD-2 subjects. Hypothesis was formulated before data collection.

Results: 12 CAI's had mean Z score at L2-L4 of -2.84 (±0.97, P < 0.001), and mean weight-matched Z score of -2.52 (±0.94, P < 0.001). Mean Z score at femoral neck was -1.33 (±0.91, P < 0.001) and mean weight-matched Z score was -1.10 (±0.82, P = 0.001). 16 5{alpha}RD-2's had mean Z score at L2-L4 of -0.84 (±1.29, P = 0.02) and mean weight-matched Z score for 15/16 patients of -0.44 (±1.08, P = 0.14). The mean Z score at the femoral neck was 0.14 (±1.02, P = 0.58) and mean weight-matched Z score for 15/16 patients was 0.49 (±0.94, P = 0.06). Therefore in CAI subjects, BMD was significantly decreased in the spine and hip. 5{alpha}RD-2 subjects had normal BMD values.

Conclusions: 1) Androgens are of direct importance in the development and/or maintenance of BMD and 2) T and/or low levels of DHT appear to be sufficient for BMD development and/or maintenance.






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