Levels of XXXX , @entity14539 , bone turnover markers as well as bone density and microarchitecture in @entity1 with high-bone-mass phenotype due to a mutation in @entity8950 .

@entity1 @entity5272 @entity1472 @entity3525 @entity14539 @entity8950 @entity1555 @entity5741 @entity63736 @entity750
@entity1 with an activation mutation of the @entity8950 gene exhibit high bone mass (HBM). Limited information is available regarding compartment-specific changes in bone. The relationship between the phenotype and serum @entity750 is not well documented. To evaluate bone, @entity750 , and bone turnover markers (BTM) in @entity8950 -HBM @entity1 , we studied 19 @entity8950 -HBM @entity1 ( @entity63736 ) and 19 age- and sex-matched controls. DXA and HR-pQCT were used to assess @entity1555 and bone structure. Serum @entity750 , @entity14539 , @entity5741 ( @entity5741 ), and BTM were evaluated. Z-scores for the forearm, total hip, lumbar spine, forearm, and whole body were significantly increased (mean    SD) between 4.94    1.45 and 7.52    1.99 in cases versus -0.19    1.19 to 0.58    0.84 in controls. Tibial and radial cortical areas, thicknesses, and @entity1555 were significantly higher in cases. In cases, @entity1555 at the lumbar spine and forearm and cortical thickness were positively associated and trabecular area negatively associated with age (r = 0.49, 0.57, 0.74, and -0.61, respectively, p <   .05). @entity750 was lowest in cases (69.5 [29.9-110.4] ng/mL versus 119.4 [62.3-231.0] ng/mL, p <   .001) and inversely associated with tibial cortical density (r =   -0.49, p <   .05) and directly with osteocalcin (OC), bone-specific alkaline phosphatase (B-ALP), and procollagen type 1 @entity1472 -terminal propeptide (PINP) (r = 0.52-0.65, p <   .05) in controls only. OC and S- @entity3525 were lower and @entity14539 higher in cases, whereas B-ALP, PINP, @entity5272 -resistant acid phosphatase (TRAP), and @entity5741 ( @entity5741 ) were similar in cases and controls. In conclusion, increased bone mass in @entity8950 -HBM @entity1 seems to be caused primarily by changes in trabecular and cortical bone mass and structure. The phenotype appeared to progress with age, but BTM did not suggest increased bone formation.
