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Developmental Endocrinology Branch (V.K.B., L.A., J.B., L.H., L.M.N., C.A.B.) and Division of Epidemiology, Statistics, and Prevention Research (J.T.), National Institute of Child Health and Human Development, and Warren G. Magnuson Clinical Center Radiology Department (J.C.R., S.H.), National Institutes of Health, Bethesda, Maryland 20892
Address all correspondence and requests for reprints to: Vladimir K. Bakalov, M.D., 10 Center Drive, Building 10/10N262, National Institutes of Health, Bethesda, Maryland 20892. E-mail: bakalov{at}mail.nih.gov.
Women with Turner syndrome (TS) are at risk for osteoporosis from ovarian failure and possibly from haploinsufficiency for bone-related X-chromosome genes. To establish whether cortical or trabecular bone is predominantly affected, and to control for the ovarian failure, we studied forearm bone mineral density (BMD) in 41 women with TS ages 1845 yr and in 35 age-matched women with karyotypically normal premature ovarian failure (POF). We measured BMD at the 1/3 distal radius (D-Rad1/3; predominantly cortical bone) and at the ultradistal radius (UD-Rad; predominantly trabecular bone) by dual x-ray absorptiometry.
Women with TS had lower cortical BMD compared with POF (D-Rad1/3 Z-score = -1.5 ± 0.8 for TS and 0.08 ± 0.7 for POF; P < 0.0001). In contrast, the primarily trabecular UD-Rad BMD was normal in TS and not significantly different from POF (Z-score = -0.62 ± 1.1 for TS and -0.34 ± 1.0 for POF; P = 0.26). The difference in cortical BMD remained after adjustment for height, age of puberty, lifetime estrogen exposure, and serum 25-hydroxyvitamin D (P = 0.0013). Cortical BMD was independent of serum IGF-I and -II, PTH, and testosterone in TS.
We conclude that there is a selective deficiency in forearm cortical bone in TS that appears independent of ovarian hormone exposure and is probably related to X-chromosome gene(s) haploinsufficiency.
Abbreviations: BMAD, Bone mineral apparent density; BMD, bone mineral density; D-Rad1/3, 1/3 distal radius; DXA, dual x-ray absorptiometry; HRT, hormone replacement therapy; POF, premature ovarian failure; TS, Turner syndrome; UD-Rad, ultradistal radius.
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