21-Hydroxylase deficiency in Brazil

Transcription

1 Brazilian Journal of Medical and Biological Research (2000) 33: OH deficiency in Brazil ISSN X Hydroxylase deficiency in Brazil T.A.S.S. Bachega 1, A.E.C. Billerbeck 1, G. Madureira 1, J.A.M. Marcondes 1, C.A. Longui 2, M.V. Leite 3, I.J.P. Arnhold 1 and B.B. Mendonça 1 1 Unidade de Endocrinologia do Desenvolvimento e Laboratório de Hormônios e Genética Molecular, Disciplina de Endocrinologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil 2 Serviço de Endocrinologia Pediátrica, Departamento de Pediatria, Santa Casa, São Paulo, SP, Brasil 3 Departamento de Clínica Médica I, Universidade Federal do Rio Grande do Norte, Natal, RN, Brasil Correspondence B.B. Mendonça Divisão de Endocrinologia Hospital das Clínicas, FM, USP Caixa Postal São Paulo, SP Brasil Fax: beremen@usp.br Presented at the First International Meeting on Adrenal Disease: Basic and Clinical Aspects, Ribeirão Preto, SP, Brazil, August 31-September 2, Research partially supported by FAPESP (No. 95/8325-6) and CNPq (No /93-9). T.A.S.S. Bachega was supported by a grant from FAPESP (No. 98/ ). Received December 20, 1999 Accepted March 29, 2000 Key words 21-Hydroxylase deficiency Congenital adrenal hyperplasia Brazilian patients CYP21 mutations Genotype Phenotype Introduction

2 1212 T.A.S.S. Bachega et al. Patients and Methods Patients Hormone assays Molecular studies Southern blotting studies

3 21OH deficiency in Brazil 1213 Genotype categories Statistical analysis Results and Discussion

4 1214 T.A.S.S. Bachega et al.

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