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