|
Ovotesticular Disorders of Sex Development
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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.
|
30739115 |
2019 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Testicular or ovotesticular disorders of sex development (DSD) in individuals with female karyotype (XX) lacking the SRY gene has been observed in several mammalian species, including dogs.
|
31220175 |
2019 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
BEFREE |
Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup.
|
28379671 |
2017 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Testicular or ovotesticular disorder of sex development (DSD) in genetic females (78,XX; SRY-negative) has been reported quite frequently in numerous dog breeds and is usually diagnosed due to the presence of female external genitalia with an enlarged clitoris.
|
27089505 |
2016 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex development; TDSD/OTDSD), due to the presence of the testis-determining gene, SRY Other rare complex syndromic forms of TDSD/OTDSD are associated with mutations in pro-ovarian genes that repress testis development (e.g.
|
27378692 |
2016 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
BEFREE |
The genetic causes of 46,XX-SRY negative testicular DSD as well as ovotesticular DSD are poorly defined.
|
25900885 |
2015 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
BEFREE |
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.
|
25169080 |
2014 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
BEFREE |
This study adds a new case of SRY-negative 46,XX testicular disorder of sex development and further verifies the view that the absence of major regions from the Y chromosome leads to an incomplete masculine phenotype, abnormal hormone levels and infertility.
|
25529318 |
2014 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
BEFREE |
Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development.
|
24149105 |
2013 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
BEFREE |
Two males with SRY-positive 46,XX testicular disorder of sex development.
|
23110663 |
2013 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
However, nearly all subjects with 46,XX ovotesticular DSD and up to one third of subjects with 46,XX testicular DSD lack SRY.
|
22570960 |
2012 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on a child with a de novo 12;17 translocation, 46,XX,t(12;17)(q14.3;q24.3) chromosome complement, resulting in SRY-negative 46,XX testicular disorder of sex development (46,XX DSD without campomelic dysplasia).
|
20082466 |
2010 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
BEFREE |
Differentiation of testicular tissue in 46,XX individuals is seen either in XX males, the majority of them with SRY gene, or in individuals, usually SRY(-), with ovotesticular disorder of sex development (OT-DSD).
|
18056774 |
2008 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, exceptional cases such as SRY-negative cases of 46,XX testicular disorder of sexual development (DSD), and of 46,XX ovotesticular DSD document that testicular tissue can develop in the absence of the SRY gene.
|
18391513 |
2007 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
LHGDN |
Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.
|
12215841 |
2002 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
SRY gene expression in the ovotestes of XX true hermaphrodites.
|
11912443 |
2002 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal.
|
7987333 |
1994 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism.
|
1740318 |
1992 |
|
Ovotesticular Disorders of Sex Development
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Ovotesticular Disorders of Sex Development
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|