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• W2080558538 abstract "Clinical EndocrinologyVolume 65, Issue 3 p. 408-410 A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty Catarina B. D’Alva, Catarina B. D’Alva Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this authorVinicius N. Brito, Vinicius N. Brito Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this authorHeloisa M. C. Palhares, Heloisa M. C. Palhares Unidade de Endocrinologia Pediátrica da Universidade Federal do Triângulo Mineiro, Uberaba, MG,Search for more papers by this authorFilomena M. Carvalho, Filomena M. Carvalho Departamento de Patologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.Search for more papers by this authorIvo J. P. Arnhold, Ivo J. P. Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this authorBerenice B. Mendonca, Berenice B. Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this authorAna Claudia Latronico, Ana Claudia Latronico Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this author Catarina B. D’Alva, Catarina B. D’Alva Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this authorVinicius N. Brito, Vinicius N. Brito Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this authorHeloisa M. C. Palhares, Heloisa M. C. Palhares Unidade de Endocrinologia Pediátrica da Universidade Federal do Triângulo Mineiro, Uberaba, MG,Search for more papers by this authorFilomena M. Carvalho, Filomena M. Carvalho Departamento de Patologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.Search for more papers by this authorIvo J. P. Arnhold, Ivo J. P. Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this authorBerenice B. Mendonca, Berenice B. Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this authorAna Claudia Latronico, Ana Claudia Latronico Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo,Search for more papers by this author First published: 06 July 2006 https://doi.org/10.1111/j.1365-2265.2006.02596.xCitations: 17Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Liu, G., Duranteau, L., Carel, J.C., Monroe, J., Doyle, D.A. & Shenker, A. (1999) Leydig cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. New England Journal of Medicine, 341, 1731– 1736. 2 Richter-Unruh, A., Wessels, H.T., Menken, U., Bergmann, M., Schmittmann-Ohters, K., Schaper, J., Tappeser, S. & Hauffa, B.P. (2002) Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor. Journal of Clinical Endocrinology and Metabolism, 87, 1052– 1056. 3 Canto, P., Soderlung, D., Ramón, G., Nishimura, E. & Méndez, J.P. (2002) Mutational analysis of the luteinizing hormone receptor in two individuals with Leydig cell tumors. American Journal of Medical Genetics, 108, 148– 152. 4 Richter-Unruh, A., Jorch, N., Wessels, H.T., Weber, E.A. & Hauffa, B.P. (2002) Venous sampling can be crucial in identifying the testicular origin of idiopathic male luteinizing hormone-independent sexual precocity. European Journal of Pediatrics, 161, 668– 671. 5 Giacaglia, L.R., Kohek, M.B., Carvalho, F.M., Fragoso, M.C., Mendonca, B.B. & Latronico, A.C. (2000) No evidence of somatic activating mutations on gonadotropin receptor genes in sex cord stromal tumors. Fertility and Sterility, 74, 992– 995. Citing Literature Volume65, Issue3September 2006Pages 408-410 ReferencesRelatedInformation" @default.
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