Two males with SRY-positive 46, XX testicular disorder of sex development
The 46, XX testicular disorder of sex development (46, XX testicular DSD) is a rare
phenotype associated with disorder of the sex chromosomes. We describe the clinical …
phenotype associated with disorder of the sex chromosomes. We describe the clinical …
Multiscale analysis of SRY‐positive 46, XX testicular disorder of sex development: presentation of nine cases
Abstract 46, XX testicular disorder of sex development (46, XX TDSD) is a relatively rare
condition characterised by the presence of testicular tissue with 46, XX karyotype. The …
condition characterised by the presence of testicular tissue with 46, XX karyotype. The …
A 45 X male patient with 7q distal deletion and rearrangement with SRY gene translocation: a case report
S Bilen, A Okten, G Karaguzel, M Ikbal… - Genetic …, 2013 - search.proquest.com
Here we present a male newborn with multiple congenital anomalies who also has an
extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X …
extremely rare form of testicular disorder of sex development (DSD). His karyotype was 45X …
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
QY Wu, N Li, WW Li, TF Li, C Zhang, YX Cui, XY Xia… - BMC urology, 2014 - Springer
Background To review the possible mechanisms proposed to explain the etiology of 46, XX
sex reversal by investigating the clinical characteristics and their relationships with …
sex reversal by investigating the clinical characteristics and their relationships with …
[PDF][PDF] The crucial role of SRY gene in the determination of human genetic sex: 46, XX disorder of sex development
CC Albu, DF Albu, AR Muşat, IG Stancu, ŞD Albu… - Rom J Morphol …, 2019 - rjme.ro
Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to
occur in 1/2500 pregnancies. A group of DSDs are the 46, XX testicular DSD. Today, the …
occur in 1/2500 pregnancies. A group of DSDs are the 46, XX testicular DSD. Today, the …
46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature
TF Li, QY Wu, C Zhang, WW Li, Q Zhou, WJ Jiang… - BMC urology, 2014 - Springer
Background 46, XX testicular disorder of sex development is a rare genetic syndrome,
characterized by a complete or partial mismatch between genetic sex and phenotypic sex …
characterized by a complete or partial mismatch between genetic sex and phenotypic sex …
Clinical and molecular studies in four patients with SRY-positive 46, XX testicular disorders of sex development: implications for variable sex development and …
S Nakashima, A Ohishi, F Takada… - Journal of human …, 2014 - nature.com
We report four patients with SRY-positive 46, XX testicular disorders of sex development (46,
XX-TDSD)(cases 1–4). Case 1 exhibited underdeveloped external genitalia with …
XX-TDSD)(cases 1–4). Case 1 exhibited underdeveloped external genitalia with …
Extended Pedigree with Multiple Cases of XX Sex Reversal in the Absence of SRY and of a Mutation at the SOX9 Locus
It is well established that testicular differentiation of the human embryonic gonad depends
on the action of the Y-chromosomal gene SRY. However, exceptional cases such as SRY …
on the action of the Y-chromosomal gene SRY. However, exceptional cases such as SRY …
XX Maleness and XX True Hermaphroditism in SRY-Negative Monozygotic Twins: Additional Evidence for a Common Origin
AT Maciel-Guerra, MP de Mello, FB Coeli… - The Journal of …, 2008 - academic.oup.com
Context: 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 …
the majority of them with SRY gene, or in individuals, usually SRY (−), with ovotesticular …
[HTML][HTML] A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46, XX testicular disorder of sex development: A case report and literature …
XY Xia, C Zhang, TF Li, QY Wu… - Molecular …, 2015 - spandidos-publications.com
The 46, XX male disorder of sex development (DSD) is rarely observed in humans. Patients
with DSD are all male with testicular tissue differentiation. The mechanism of sex …
with DSD are all male with testicular tissue differentiation. The mechanism of sex …