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Osteogenesis imperfecta type III and hypogonadotropic hypogonadism result in severe bone loss: a case report

Osteogenesis imperfecta Typ III und hypogonadotroper Hypogonadismus führen zu massiven Knochenverlust: ein Fallbericht

Summary

We present the case of a 33-year-old male patient with multiple fractures and typical radiographical and clinical characteristics of osteogenesis imperfecta (OI) type III. Furthermore, the patient has suffered from hypogonadotropic hypogonadism since childhood. On the basis of antiresorptive therapy, no further fractures occurred within several years. Recently, recurrent nontraumatic fractures without bone healing were observed. Decreased bone mineral density was assessed by dual X-ray absorptiometry (DXA). High-resolution peripheral quantitative computed tomography (HR-pQCT) showed impaired trabecular bone structure. Due to recurrent fragility fractures and severe deterioration of bone structure, an osteoanabolic treatment with teriparatide was initiated to potentially stimulate fracture healing and to increase bone formation.

Zusammenfassung

Bei einem 33-jährigen Mann mit multiplen Frakturen wurde anhand von radiologischen und extraskeletalen Merkmalen die Diagnose Osteogenesis imperfecta Typ III nach Sillence gestellt. Seit der Kindheit besteht zusätzlich ein Hypogonadismus bei Hypophyseninsuffizienz. Nach mehrjähriger antiresorptiver Therapie und frakturfreiem Intervall traten rezidivierende atraumatische Femurfrakturen ohne adäquate Frakturheilung auf. Neben hochgradig osteoporotischen Knochendichtewerten in der DXA-Messung zeigte sich ein trabekulärer Strukturdefekt. Zur Frakturkonsolidierung und Verbesserung der Knochenmikroarchitektur wurde eine osteoinduktive Therapie mittels Teriparatid begonnen.

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Correspondence to Roland Kocijan MD.

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Plachel, F., Renner, U., Kocijan, R. et al. Osteogenesis imperfecta type III and hypogonadotropic hypogonadism result in severe bone loss: a case report. Wien Med Wochenschr 165, 285–289 (2015). https://doi.org/10.1007/s10354-015-0367-4

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  • DOI: https://doi.org/10.1007/s10354-015-0367-4

Keywords

  • Osteogenesis imperfecta
  • HR-pQCT
  • Hypopituitarism
  • Hypogonadism

Schlüsselwörter

  • Osteogenesis imperfecta
  • HR-pQCT
  • Hypophyseninsuffizienz
  • Hypogonadismus