46, XX Disorders of Sex Development

Known as: 46, XX DSD, 46, XX Disorders of Sex Development [Disease/Finding], 46,XX DSD 
Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
National Institutes of Health

Topic mentions per year

Topic mentions per year

2007-2017
051020072017

Papers overview

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2016
2016
Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical… (More)
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2015
2015
BACKGROUND SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal… (More)
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2015
2015
Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development… (More)
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Review
2015
Review
2015
STUDY OBJECTIVE The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD… (More)
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2014
2014
CONTEXT The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development… (More)
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Review
2014
Review
2014
Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or… (More)
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2010
2010
Individuals with rare cytogenetic variants have contributed to our understanding of the genetics of sex development and its… (More)
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Highly Cited
2010
Highly Cited
2010
Male development in mammals is normally initiated by the Y-linked gene Sry, which activates expression of Sox9, leading to a… (More)
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2010
2010
The goal of sex assignment is to facilitate the best possible quality of life for the patient. Factors such as reproductive… (More)
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2007
2007
We assessed the predictive value of anatomical findings and karyotype for establishing a diagnostic orientation in patients with… (More)
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