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46, XX Disorders of Sex Development
Known as:
46, XX DSD
, 46, XX Disorders of Sex Development [Disease/Finding]
, 46,XX DSD
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Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
National Institutes of Health
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Related topics
Related topics
12 relations
Narrower (6)
AROMATASE EXCESS SYNDROME
Aromatase deficiency
Cortisone reductase deficiency
Female Pseudohermaphroditism
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In Blood
Microbiological
chemically induced
nursing therapy
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
K. Hamanaka
,
A. Takata
,
+20 authors
N. Matsumoto
Human Molecular Genetics
2019
Corpus ID: 115202312
Disorders of sex development (DSDs) are defined as congenital conditions in which chromosomal, gonadal or anatomical sex is…
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Highly Cited
2015
Highly Cited
2015
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
Gwang-Jin Kim
,
E. Sock
,
+26 authors
G. Scherer
Journal of Medical Genetics
2015
Corpus ID: 28977189
Background SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal…
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Highly Cited
2015
Highly Cited
2015
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)
C. Hyon
,
S. Chantot-Bastaraud
,
+12 authors
A. Bashamboo
American Journal of Medical Genetics. Part A
2015
Corpus ID: 9468126
Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito‐urinary tract development…
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Review
2012
Review
2012
Mammalian sex determination—insights from humans and mice
Stefanie Eggers
,
A. Sinclair
Chromosome Research
2012
Corpus ID: 886887
Disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex…
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Review
2011
Review
2011
Long‐term outcome of ovotesticular disorder of sex development: A single center experience
Futoshi Matsui
,
K. Shimada
,
+4 authors
M. Nakayama
International journal of urology
2011
Corpus ID: 19264613
Objectives: To describe the clinical features of children with ovotesticular disorder of sex development (DSD) and to review…
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Highly Cited
2010
Highly Cited
2010
Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development.
J. Polanco
,
D. Wilhelm
,
Tara-Lynne Davidson
,
D. Knight
,
P. Koopman
Human Molecular Genetics
2010
Corpus ID: 14049215
Male development in mammals is normally initiated by the Y-linked gene Sry, which activates expression of Sox9, leading to a…
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Highly Cited
2010
Highly Cited
2010
Approach to assigning gender in 46,XX congenital adrenal hyperplasia with male external genitalia: replacing dogmatism with pragmatism.
C. Houk
,
Peter A. Lee
Journal of Clinical Endocrinology and Metabolism
2010
Corpus ID: 1814402
The goal of sex assignment is to facilitate the best possible quality of life for the patient. Factors such as reproductive…
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2010
2010
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development
Osama Refai
,
A. Friedman
,
+4 authors
H. Ostrer
American Journal of Medical Genetics. Part A
2010
Corpus ID: 42969999
Individuals with rare cytogenetic variants have contributed to our understanding of the genetics of sex development and its…
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Review
2010
Review
2010
Surgical options in disorders of sex development (dsd) with ambiguous genitalia.
I. Vidal
,
D. Gorduza
,
+5 authors
P. Mouriquand
Best practice & research. Clinical endocrinology…
2010
Corpus ID: 22381577
Review
2009
Review
2009
Genetic and Clinical Spectrum of Aromatase Deficiency in Infancy, Childhood and Adolescence
A. Belgorosky
,
G. Guercio
,
C. Pepe
,
N. Saraco
,
M. Rivarola
Hormone Research in Paediatrics
2009
Corpus ID: 6868245
Introduction: cP450aromatase deficiency provides clues for the understanding of the role of aromatase in prepubertal and pubertal…
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