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Case Reports in Endocrinology
Volume 2013 (2013), Article ID 465376, 4 pages
Hypogonadotropic Hypogonadism Associated with Hereditary Hemorrhagic Telengiectasia
1Neurology Unit, “S. Maria del Pozzo” Hospital, Somma Vesuviana, 80049 Naples, Italy
2Center for Rare Diseases, “Clinica Medica Frugoni”, University Hospital of Bari, 70124 Bari, Italy
3Unit of Endocrinology, University Hospital of Bari, 70124 Bari, Italy
Received 23 February 2013; Accepted 18 March 2013
Academic Editors: M. A. Boyanov, O. Isozaki, M. P. Kane, and L. Mastrandrea
Copyright © 2013 Scarano Valentina et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- M. E. Faughnan, V. A. Palda, G. Garcia-Tsao et al., “International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia,” Journal of Medical Genetics, vol. 48, no. 2, pp. 73–87, 2011.
- C. L. Shovlin, A. E. Guttmacher, E. Buscarini et al., “Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome),” American Journal of Medical Genetics, vol. 91, pp. 66–67, 2000.
- C. Sabbà, G. Pasculli, G. M. Lenato et al., “Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers,” Journal of Thrombosis and Haemostasis, vol. 5, no. 6, pp. 1149–1157, 2007.
- J. Young, “Approach to the male patient with congenital hypogonadotropic hypogonadism,” The Journal of Clinical Endocrinology and Metabolism, vol. 97, pp. 707–718, 2012.
- P. Pierucci, G. M. Lenato, P. Suppressa et al., “A long diagnostic delay in patients with Haereditary Hemorrhagic Telangiectasia: a questionnaire-based retrospective study,” Orphanet Journal of Rare Diseases, vol. 7, article 33, 2012.
- HHT Mutation Database, ARUP Scientific Resource for Research and Education. The University of Utah, http://arup.utah.edu/database/hht/index.php.
- M. E. Paquet, N. Pece-Barbara, S. Vera et al., “Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function,” Human Molecular Genetics, vol. 10, no. 13, pp. 1347–1357, 2001.
- O. Llorca, A. Trujillo, F. J. Blanco, and C. Bernabeu, “Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia,” Journal of Molecular Biology, vol. 365, no. 3, pp. 694–705, 2007.
- R. A. Rey, S. Gottlieb, T. Pasqualini et al., “Are Klinefelter boys hypogonadal?” Acta Paediatrica, vol. 100, no. 6, pp. 830–838, 2011.
- V. A. Giagulli, V. Triggiani, G. Corona et al., “Evidence-based medicine update on testosterone replacement therapy (TRT) in male hypogonadism: focus on new formulations,” Current Pharmaceutical Design, vol. 17, no. 15, pp. 1500–1511, 2011.