| Literature DB >> 18811725 |
Berenice Bilharinho Mendonca1, Sorahia Domenice, Ivo J P Arnhold, Elaine M F Costa.
Abstract
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.Entities:
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Year: 2009 PMID： 18811725 DOI： 10.1111/j.1365-2265.2008.03392.x
Source DB: PubMed Journal: Clin Endocrinol (Oxf) ISSN： 0300-0664 Impact factor: 3.478