MCID: NNS035
MIFTS: 12

Nonsyndromic 46,xx Testicular Disorders of Sex Development

Categories: Reproductive diseases

Aliases & Classifications for Nonsyndromic 46,xx Testicular Disorders of Sex Development

MalaCards integrated aliases for Nonsyndromic 46,xx Testicular Disorders of Sex Development:

Name: Nonsyndromic 46,xx Testicular Disorders of Sex Development 24
46,xx Testicular Dsd 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance in those with a known genetic etiology is believed to be 100%, but no data are available....

Classifications:



Summaries for Nonsyndromic 46,xx Testicular Disorders of Sex Development

MalaCards based summary : Nonsyndromic 46,xx Testicular Disorders of Sex Development, also known as 46,xx testicular dsd, is related to 46,xx sex reversal 2 and 46,xx sex reversal 1. An important gene associated with Nonsyndromic 46,xx Testicular Disorders of Sex Development is SRY (Sex Determining Region Y). Affiliated tissues include skin and testis.

GeneReviews: NBK1416

Related Diseases for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Diseases related to Nonsyndromic 46,xx Testicular Disorders of Sex Development via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 2 10.2
2 46,xx sex reversal 1 10.2
3 infant gynecomastia 10.2
4 gynecomastia 10.2
5 azoospermia 10.2
6 hypogonadism 10.2
7 hypogonadotropism 10.2

Graphical network of the top 20 diseases related to Nonsyndromic 46,xx Testicular Disorders of Sex Development:



Diseases related to Nonsyndromic 46,xx Testicular Disorders of Sex Development

Symptoms & Phenotypes for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Drugs & Therapeutics for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Search Clinical Trials , NIH Clinical Center for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Genetic Tests for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Anatomical Context for Nonsyndromic 46,xx Testicular Disorders of Sex Development

MalaCards organs/tissues related to Nonsyndromic 46,xx Testicular Disorders of Sex Development:

41
Skin, Testis

Publications for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Articles related to Nonsyndromic 46,xx Testicular Disorders of Sex Development:

(show top 50) (show all 64)
# Title Authors PMID Year
1
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. 38 4
25077096 2014
2
Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD. 38 4
22570960 2012
3
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. 38 4
20082466 2010
4
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. 4
25351776 2015
5
New genomic technologies: an aid for diagnosis of disorders of sex development. 4
25970709 2015
6
BMP-Smad4 signaling is required for precartilaginous mesenchymal condensation independent of Sox9 in the mouse. 4
25641697 2015
7
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. 4
25604083 2015
8
A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9. 4
24140641 2013
9
Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin. 4
23380608 2013
10
XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. 4
22678921 2012
11
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 4
22051515 2011
12
XX males SRY negative: a confirmed cause of infertility. 4
21653197 2011
13
A SOX9 duplication and familial 46,XX developmental testicular disorder. 4
21208124 2011
14
Identification of SOX3 as an XX male sex reversal gene in mice and humans. 4
21183788 2011
15
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. 4
18085567 2008
16
R-spondin1 is essential in sex determination, skin differentiation and malignancy. 4
17041600 2006
17
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. 4
16882788 2006
18
Consensus statement on management of intersex disorders. 4
18947601 2006
19
Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. 4
16200839 2005
20
Testosterone substitution with a new transdermal, hydroalcoholic gel applied to scrotal or non-scrotal skin: a multicentre trial. 4
16061839 2005
21
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 4
15800844 2005
22
Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis. 4
15751609 2005
23
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. 4
15342697 2004
24
Twin brothers with MIDAS syndrome and XX karyotype. 4
12707958 2003
25
Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype. 4
12400076 2002
26
Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. 4
12215841 2002
27
46,XX sex reversal. 4
11750731 2001
28
XX males without SRY gene and with infertility. 4
11278224 2001
29
An SRY-negative XX male with Huriez syndrome. 4
10733237 2000
30
Autosomal XX sex reversal caused by duplication of SOX9. 4
10588843 1999
31
Clinical and molecular analysis of XX sex reversed patients. 4
9719302 1998
32
Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. 4
9302280 1997
33
Two SRY-negative XX male brothers without genital ambiguity. 4
9341880 1997
34
SRY-negative true hermaphrodites and an XX male in two generations of the same family. 4
8655137 1996
35
Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. 4
7920661 1994
36
Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. 4
8033363 1994
37
SRY-negative XX fetus with complete male phenotype. 4
7904700 1994
38
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. 4
8116674 1994
39
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. 4
8475082 1993
40
The role of the sex-determining region Y gene in the etiology of 46,XX maleness. 4
8383144 1993
41
Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. 4
8402263 1993
42
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. 4
1695712 1990
43
Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. 4
2298458 1990
44
Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. 4
3738510 1986
45
Gonadotropin dynamics in XX males. 4
6788790 1981
46
The etiology of maleness in XX men. 4
6945286 1981
47
Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. 4
572812 1979
48
Paternal transmission of maleness in XX human beings. 4
4685451 1973
49
Analytic review: nature and origin of males with XX sex chromosomes. 4
4622299 1972
50
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. 38
30739115 2019

Variations for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Expression for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Search GEO for disease gene expression data for Nonsyndromic 46,xx Testicular Disorders of Sex Development.

Pathways for Nonsyndromic 46,xx Testicular Disorders of Sex Development

GO Terms for Nonsyndromic 46,xx Testicular Disorders of Sex Development

Sources for Nonsyndromic 46,xx Testicular Disorders of Sex Development

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