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Normal bone mineral content but unfavourable muscle/fat-ratio in Klinefelter syndrome
  1. Lise Aksglaede (lise.aksglaede{at}rh.hosp.dk)
  1. University of Copenhagen, Rigshospitalet, Dep. of Growht and Reproduction, Denmark
    1. Christian Molgaard (cm{at}life.ku.dk)
    1. University of Copenhagen, Faculty of Life Sciences and Rigshospitaet, Dep. of Human Nutrition, Denmark
      1. Niels E Skakkebæk (nes{at}rh.dk)
      1. University of Copenhagen, Rigshospitalet, Dep. of Growth and Reproduction, Denmark
        1. Anders Juul (juul{at}rh.dk)
        1. University of Copenhagen, Rigshospitalet, Dep. of Growth and Reproduction, Denmark

          Abstract

          Objective: To evaluate body composition and bone mineral content (BMC) in children and adolescents with Klinefelter syndrome.

          Design: Retrospective cross-sectional study.

          Setting: Tertiary endocrine clinic at the University Hospital, Copenhagen.

          Patients: Eighteen untreated and six androgen-substituted boys with KS aged 11.0 years (range 4.3 to 18.6) participated.

          Intervention: Dual energy X-ray absorptiometry and anthropometric measurements were analysed. Main Outcome Measures: Lumbar and whole body BMC, lean body mass (LBM), body fat mass (BFM), body fat percentage (BF%), height and body mass index (BMI) were compared between treated and untreated KS boys and compared to normal age-matched boys.

          Results: LBM (untreated -0.3 (-2.4 to +2.1) and treated +1.1 (-1.6 to +2.1)) was normal while BFM (untreated +0.5 (-1.0 to +2.3), p=0.02 and treated +1.6 (-0.2 to +2.4), p=0.01) was significantly increased, all expressed as SDS. Lumbar BMD (untreated -0.4 (-3.1 to +0.9) and treated +1.0 (-1.4 to +3.0)) and whole body BMC (untreated +0.1 (-1.8 to +3.3) and treated +1.5 (-1.1 to +2.5)) was normal.

          Conclusion: We found significantly increased BFM and BF% despite normal LBM, suggesting the presence of an unfavourable muscle/fat ratio. Lumbar BMD and whole body BMC were normal. These findings suggest that the unfavourable metabolic profile seen in adult KS may already be present in childhood as evidenced by the increased fat mass, whereas the reported low BMD seems to develop after puberty.

          • Body fat mass
          • Bone mineral content
          • Klinefelter syndrome

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