46,XY disorders of sex development (DSD)
- 19 January 2009
- journal article
- review article
- Published by Wiley in Clinical Endocrinology
- Vol. 70 (2), 173-187
- https://doi.org/10.1111/j.1365-2265.2008.03392.x
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.Keywords
This publication has 96 references indexed in Scilit:
- Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450sccJournal of Clinical Endocrinology & Metabolism, 2008
- Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual DevelopmentJournal of Clinical Endocrinology & Metabolism, 2008
- Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative studyHuman Reproduction, 2007
- Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyHuman Mutation, 2007
- Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal FunctionJournal of Clinical Endocrinology & Metabolism, 2007
- Steroidogenic factor-1 is a sphingolipid binding proteinMolecular and Cellular Endocrinology, 2006
- Fgf9 and Wnt4 Act as Antagonistic Signals to Regulate Mammalian Sex DeterminationPLoS Biology, 2006
- Consensus statement on management of intersex disordersArchives of Disease in Childhood, 2005
- Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related geneNature, 1994
- Male pseudohermaphroditism resulting from Leydig cell hypoplasiaThe Journal of Pediatrics, 1985