46,XY disorders of sex development (DSD)
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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Data(s) |
19/10/2012
19/10/2012
2009
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Resumo |
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review we present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and our three decades of experience with these patients. |
Identificador |
CLINICAL ENDOCRINOLOGY, v.70, n.2, p.173-187, 2009 0300-0664 http://producao.usp.br/handle/BDPI/21275 10.1111/j.1365-2265.2008.03392.x |
Idioma(s) |
eng |
Publicador |
WILEY-BLACKWELL PUBLISHING, INC |
Relação |
Clinical Endocrinology |
Direitos |
restrictedAccess Copyright WILEY-BLACKWELL PUBLISHING, INC |
Palavras-Chave | #LEYDIG-CELL HYPOPLASIA #ANDROGEN-INSENSITIVITY SYNDROME #LUTEINIZING-HORMONE-RECEPTOR #STEROIDOGENIC FACTOR-I #CHAIN CLEAVAGE ENZYME #LEMLI-OPITZ-SYNDROME #COMPOUND HETEROZYGOUS MUTATIONS #LIPOID ADRENAL-HYPERPLASIA #MUTANT P450 OXIDOREDUCTASE #ANTLEY-BIXLER-SYNDROME #Endocrinology & Metabolism |
Tipo |
article original article publishedVersion |