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Erschienen in: Wiener Medizinische Wochenschrift 13-14/2015

01.07.2015 | case report

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

verfasst von: Fabian Plachel, MD, Ursula Renner, MD, Roland Kocijan, MD, Christian Muschitz, MD, Univ. Doz. Fritz Lomoschitz, MD, Prof. Heinrich Resch, MD

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 13-14/2015

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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.
Literatur
1.
Zurück zum Zitat Lindahl K, Langdahl B, Ljunggren O, Kindmark A. Treatment of osteogenesis imperfecta in adults. Eur J Endocrinol. 2014;171:R79–90.PubMedCrossRef Lindahl K, Langdahl B, Ljunggren O, Kindmark A. Treatment of osteogenesis imperfecta in adults. Eur J Endocrinol. 2014;171:R79–90.PubMedCrossRef
2.
Zurück zum Zitat Garbes L, Kim K, Riess A, Hoyer-Kuhn H, Beleggia F, Bevot A, et al. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet. 2015;96:432–9.PubMedCrossRef Garbes L, Kim K, Riess A, Hoyer-Kuhn H, Beleggia F, Bevot A, et al. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet. 2015;96:432–9.PubMedCrossRef
4.
Zurück zum Zitat Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G, Duboeuf F, et al. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res. 2006;21:300–6.PubMedCrossRef Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G, Duboeuf F, et al. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res. 2006;21:300–6.PubMedCrossRef
5.
Zurück zum Zitat Kocijan R, Muschitz C, Fahrleitner-Pammer A, Amrein K, Pietschmann P, Haschka J, et al. Serum sclerostin levels are decreased in adult patients with different types of osteogenesis imperfecta. J Clin Endocrinol Metab. 2014;99:E311–9.PubMedCrossRef Kocijan R, Muschitz C, Fahrleitner-Pammer A, Amrein K, Pietschmann P, Haschka J, et al. Serum sclerostin levels are decreased in adult patients with different types of osteogenesis imperfecta. J Clin Endocrinol Metab. 2014;99:E311–9.PubMedCrossRef
6.
Zurück zum Zitat Fritez N, Sobrier ML, Iraqi H, Vie-Luton MP, Netchine I, El Annas A, et al. Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clin Endocrinol (Oxf). 2015;82:876–84.CrossRef Fritez N, Sobrier ML, Iraqi H, Vie-Luton MP, Netchine I, El Annas A, et al. Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clin Endocrinol (Oxf). 2015;82:876–84.CrossRef
7.
Zurück zum Zitat Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, et al. Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clin Endocrinol (Oxf). 2009;71:376–82.CrossRef Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, et al. Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clin Endocrinol (Oxf). 2009;71:376–82.CrossRef
8.
Zurück zum Zitat Wuster C, Abs R, Bengtsson BA, Bennmarker H, Feldt-Rasmussen U, Hernberg-Stahl E, et al. The influence of growth hormone deficiency, growth hormone replacement therapy, and other aspects of hypopituitarism on fracture rate and bone mineral density. J Bone Miner Res. 2001;16:398–405.PubMedCrossRef Wuster C, Abs R, Bengtsson BA, Bennmarker H, Feldt-Rasmussen U, Hernberg-Stahl E, et al. The influence of growth hormone deficiency, growth hormone replacement therapy, and other aspects of hypopituitarism on fracture rate and bone mineral density. J Bone Miner Res. 2001;16:398–405.PubMedCrossRef
9.
Zurück zum Zitat Vieira da Costa J, Pereira-Lima JF, da Costa Oliveira M. Bone mineral density in early-onset hypogonadism and the effect of hormonal replacement. J Clin Densitom. 2004;7:334–40.PubMedCrossRef Vieira da Costa J, Pereira-Lima JF, da Costa Oliveira M. Bone mineral density in early-onset hypogonadism and the effect of hormonal replacement. J Clin Densitom. 2004;7:334–40.PubMedCrossRef
10.
Zurück zum Zitat Paterson CR, McAllion S, Stellman JL. Osteogenesis imperfecta after the menopause. N Engl J Med. 1984;310:1694–6.PubMedCrossRef Paterson CR, McAllion S, Stellman JL. Osteogenesis imperfecta after the menopause. N Engl J Med. 1984;310:1694–6.PubMedCrossRef
11.
Zurück zum Zitat Hald JD, Evangelou E, Langdahl BL, Ralston SH. Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials. J Bone Miner Res. 2015;30:929–33.PubMedCrossRef Hald JD, Evangelou E, Langdahl BL, Ralston SH. Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials. J Bone Miner Res. 2015;30:929–33.PubMedCrossRef
12.
Zurück zum Zitat Kocijan R, Haschka J, Muschitz C, Trubrich A, Patsch J, Resch H. Enhanced callus formation after six weeks of parathyroid hormone treatment in a man with multiple pelvic fractures and osteogenesis imperfecta type IV. J Bone Joint Surg Am. 2012;2(4):e74. http://dx.doi.org/10.2106/JBJS.CC.L.00042. Kocijan R, Haschka J, Muschitz C, Trubrich A, Patsch J, Resch H. Enhanced callus formation after six weeks of parathyroid hormone treatment in a man with multiple pelvic fractures and osteogenesis imperfecta type IV. J Bone Joint Surg Am. 2012;2(4):e74. http://​dx.​doi.​org/​10.​2106/​JBJS.​CC.​L.​00042.
13.
Zurück zum Zitat Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, et al. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest. 2014;124:491–8.PubMedCentralPubMedCrossRef Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, et al. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest. 2014;124:491–8.PubMedCentralPubMedCrossRef
14.
Zurück zum Zitat Gatti D, Rossini M, Viapiana O, Povino MR, Liuzza S, Fracassi E, et al. Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcif Tissue Int. 2013;93:448–52.PubMedCrossRef Gatti D, Rossini M, Viapiana O, Povino MR, Liuzza S, Fracassi E, et al. Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcif Tissue Int. 2013;93:448–52.PubMedCrossRef
15.
Zurück zum Zitat Antoniazzi F, Monti E, Venturi G, Franceschi R, Doro F, Gatti D, et al. GH in combination with bisphosphonate treatment in osteogenesis imperfecta. Eur J Endocrinol. 2010;163:479–87.PubMedCrossRef Antoniazzi F, Monti E, Venturi G, Franceschi R, Doro F, Gatti D, et al. GH in combination with bisphosphonate treatment in osteogenesis imperfecta. Eur J Endocrinol. 2010;163:479–87.PubMedCrossRef
16.
Zurück zum Zitat O’Halloran DJ, Tsatsoulis A, Whitehouse RW, Holmes SJ, Adams JE, Shalet SM. Increased bone density after recombinant human growth hormone (GH) therapy in adults with isolated GH deficiency. J Clin Endocrinol Metab. 1993;76:1344–8. O’Halloran DJ, Tsatsoulis A, Whitehouse RW, Holmes SJ, Adams JE, Shalet SM. Increased bone density after recombinant human growth hormone (GH) therapy in adults with isolated GH deficiency. J Clin Endocrinol Metab. 1993;76:1344–8.
17.
Zurück zum Zitat Scott CI, Mengel MC, Lawrence GD, Schultz KT, Edgar PJ. Osteogenesis imperfecta and hypopituitarism in two unrelated males. Birth Defects Orig Artic Ser. 1971;7:259–62. Scott CI, Mengel MC, Lawrence GD, Schultz KT, Edgar PJ. Osteogenesis imperfecta and hypopituitarism in two unrelated males. Birth Defects Orig Artic Ser. 1971;7:259–62.
18.
Zurück zum Zitat Kocijan R, Muschitz C, Haschka J, Hans D, Nia A, Geroldinger A, et al. Bone structure assessed by HR-pQCT, TBS and DXL in adult patients with different types of osteogenesis imperfecta. Osteoporos Int. 2015. [Epub ahead of print]. Kocijan R, Muschitz C, Haschka J, Hans D, Nia A, Geroldinger A, et al. Bone structure assessed by HR-pQCT, TBS and DXL in adult patients with different types of osteogenesis imperfecta. Osteoporos Int. 2015. [Epub ahead of print].
Metadaten
Titel
Osteogenesis imperfecta type III and hypogonadotropic hypogonadism result in severe bone loss: a case report
verfasst von
Fabian Plachel, MD
Ursula Renner, MD
Roland Kocijan, MD
Christian Muschitz, MD
Univ. Doz. Fritz Lomoschitz, MD
Prof. Heinrich Resch, MD
Publikationsdatum
01.07.2015
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 13-14/2015
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-015-0367-4

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