46,XY disorders of sex development (DSD)


Autoria(s): MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia; ARNHOLD, Ivo J. P.; COSTA, Elaine M. F.
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

19/10/2012

19/10/2012

2009

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

http://dx.doi.org/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