Abstract:
INTRODUCTION:Sex steroids have distinct effects on bone growth and maintenance in men and women, mediated through their respective steroid receptors. Though most evidence is derived from animal studies, several concepts have been confirmed in humans by detection of specific mutations. In this report we describe changes in bone size and volumetric bone density in a complete androgen insensitive subject (CAIS) due to a mutation in the androgen receptor during 5 years of estrogen treatment. MATERIALS AND METHODS:We present a case report of a 31 year old XY female with CAIS with a longitudinal follow-up for 5 years of areal and volumetric bone parameters. Areal and volumetric bone parameters were determined using dual-energy X-ray absorptiometry (DXA) and peripheral quantitative computed tomography (pQCT). Sex steroids, LH, FSH and IGF-I were determined by immunoassay. RESULTS:Complete androgen insensitivity syndrome was genetically confirmed by detection of the mutation Asp767Tyr in the androgen receptor gene. Bone size at presentation was found to be intermediate between male and female reference values. Low areal and volumetric bone density (both trabecular and cortical) was observed at baseline and improved gradually with estrogen treatment (+2% to 6.5%). Upon estrogen treatment, endosteal contraction (-1%) was demonstrated, with increasing cortical thickness (+3%), cortical area (+5%) and unchanged periosteal circumference. CONCLUSIONS:During adult life, estrogens mediate endosteal bone apposition and volumetric bone density, without marked influence on periosteal bone apposition. The finding of a bone size intermediate between male and female supports testosterone as an essential mediator for periosteal bone expansion, but not as the sole stimulus for bone expansion during growth.
journal_name
Bonejournal_title
Boneauthors
Taes Y,Lapauw B,Vandewalle S,Zmierczak H,Goemaere S,Vanderschueren D,Kaufman JM,T'Sjoen Gdoi
10.1016/j.bone.2009.04.198subject
Has Abstractpub_date
2009-08-01 00:00:00pages
392-7issue
2eissn
8756-3282issn
1873-2763pii
S8756-3282(09)01498-7journal_volume
45pub_type
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