Effect of growth hormone therapy in two sisters with SHOX haploinsufficiency
Tatsuhiko Urakami
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorMaki Hasegawa
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorShigeo Morimoto
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorHiroshi Saitoh
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorHideo Mugishima
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorTatsuhiko Urakami
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorMaki Hasegawa
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorShigeo Morimoto
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorHiroshi Saitoh
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this authorHideo Mugishima
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Search for more papers by this author
References
- 1 Rao E, Weiss B, Fukami M et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet. 1997; 16: 54–63.
- 2 Ellison JW, Wardak Z, Young MF, Robey PG, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum. Mol. Genet. 1997; 6: 1441–47.
- 3 Belin V, Cusin V, Viot G et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat. Genet. 1998; 19: 67–9.
- 4 Rappold GA, Fukami M, Niesler B et al. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J. Clin. Endocrinol. Metab. 2002; 87: 1402–06.
- 5 Takano K, Ogawa M, Tanaka T, Tachibana K, Fujita K, Hizuka N. Clinical trials of GH treatment in patients with Turner syndrome in Japan: A consideration of final fight. Eur. J. Endocrinol. 1997; 137: 138–45.
- 6 Binder G, Schwarze CP, Ranke MB. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J. Clin. Endocrinol. Metab. 2000; 85: 245–49.
- 7
Shanske A,
Ellison J,
Vuguin P et al.
Deletion of the pseudoautosomal region in a male with a unique Y; 13 translocation and short stature.
Am. J. Med. Genet.
1999; 82: 34–9.
10.1002/(SICI)1096-8628(19990101)82:1<34::AID-AJMG7>3.0.CO;2-Q CAS PubMed Web of Science® Google Scholar
- 8 Munns CFJ, Berry M, Vickers D et al. Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency. J. Pediatr. Endocrinol. Metab. 2003; 16: 997–1004.
- 9 Ogata T, Onigata K, Hotsubo T, Matsuo N, Rappold G. Growth hormone and gonadtropin-releasing hormone analog therapy in haploinsufficiency of SHOX. Endocr. J. 2001; 48: 317–22.
- 10 Kosho T, Muroya K, Nagai T et al. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome. J. Clin. Endocrinol. Metab. 1999; 84: 4613–24.
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