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46,XY disorders of sex development (DSD).
Mendonca, Berenice Bilharinho; Domenice, Sorahia; Arnhold, Ivo J P; Costa, Elaine M F.
Afiliación
  • Mendonca BB; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular, LIM 42, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, São Paulo, Brazil. beremen@usp.br
Clin Endocrinol (Oxf) ; 70(2): 173-87, 2009 Feb.
Article en En | MEDLINE | ID: mdl-18811725
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Disgenesia Gonadal 46 XY / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Clin Endocrinol (Oxf) Año: 2009 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Disgenesia Gonadal 46 XY / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Clin Endocrinol (Oxf) Año: 2009 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido