Skip to search formSkip to main contentSkip to account menu

46, XY Disorders of Sex Development

Known as: 46,XY DSD, DSD, 46,XY, 46,XY DSDs 
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
National Institutes of Health

Related topics

Related topics

17 relations

Narrower (11)

17-Hydroxysteroid Dehydrogenase Deficiency46,XY Sex Reversal 346,Xy True Hermaphroditism, Sry-RelatedLeydig Cell Hypoplasia
In BloodMicrobiologicalchemically inducednursing therapy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
Highly Cited
2016
Highly Cited
2016
Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development.
CONTEXT The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical… 
Highly Cited
2015
Highly Cited
2015
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
CONTEXT Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and… 
Highly Cited
2015
Highly Cited
2015
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development ( Revised 2015 )
*School of Medicine, University of Glasgow, Glasgow †Developmental Endocrinology Research Group, University College London… 
2015
2015
46, XY Disorder of Sex Development
46, XY disorder of sex development (46, XY DSD) is an anatomoclinical entity due to a failure of testicular determination. At… 
Highly Cited
2012
Highly Cited
2012
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
CONTEXT Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and… 
Highly Cited
2011
Highly Cited
2011
Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a… 
Highly Cited
2011
Highly Cited
2011
EVALUASI HASIL OPERASI HIPOSPADIA PADA PASIEN DENGAN 46,XY DISORDERS OF SEX DEVELOPMENT (DSD)
Background: Disorders of sex development manifesting as hypospadias in patients with 46,XY DSD require surgical treatment… 
Highly Cited
2010
Highly Cited
2010
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
BACKGROUND Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are… 
Review
2009
Review
2009
46,XY disorders of sex development (DSD)
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)