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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.
2020
2020
Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development
Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and… 
2015
2015
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation
The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal… 
2014
2014
Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre
Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD). Our aim was to… 
Review
2013
Review
2013
Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients
Background: Individuals with NR5A1 mutations encoding steroidogenic factor-1 (SF1) develop a phenotypically broad range of… 
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… 
Review
2010
Review
2010
A practical approach to ambiguous genitalia in the newborn period.
2008
2008
Gender Role Across Development in Adults with 46,XY Disorders of Sex Development Including Perineoscrotal Hypospadias and Small Phallus Raised Male or Female
Self-rated degree of femininity and masculinity across development were evaluated for 40 adults affected by 46,XY disorders of… 
2003
2003
Specific Features of Fermentation of D-Xylose and D-Glucose by Xylose-Assimilating Yeasts
The ability to assimilate D-glucose and D-xylose was studied in 21 yeast species of the following genera: Candida, Kluyveromyces… 
1996
1996
[Pure 46XY gonadal dysgenesis].
46 XY pure gonad dysgenesia, also known as Swyer syndrome, is a disorder of sexual differentiation. The patients are phenotypic… 
Highly Cited
1983
Highly Cited
1983
Sex reversal in XY mice caused by dominant mutation on chromosome 17
A Y-linked gene(s) is undoubtedly a prerequisite for testicular development in mammals. However, exceptional cases suggest that… 
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