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- Seki Atsuhito
- Department of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan
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- Jinno Tomoko
- Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
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- Suzuki Erina
- Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
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- Takayama Shinichiro
- Department of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan
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- Ogata Tsutomu
- Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
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- Fukami Maki
- Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
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抄録
SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Recent studies have suggested that perturbed programmed cell death of hypertrophic chondrocytes may underlie the skeletal changes related to SHOX deficiency. Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity. Blood estrogen levels and mutation types have been proposed as phenotypic determinants of SHOX deficiency, although other unknown factors may also affect clinical severity of this entity.
収録刊行物
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- Clinical Pediatric Endocrinology
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Clinical Pediatric Endocrinology 23 (3), 65-72, 2014
日本小児内分泌学会