46, XX male sex reversal syndrome: a case report and review of the genetic basis

T Wang, JH Liu, J Yang, J Chen, ZQ Ye - Andrologia, 2009 - Wiley Online Library
Sex reversal syndrome is a kind of human genetic disease about gender dysplasia, which is
characterised by inconsistency between gonadal sexuality and chromosome sexuality; the …

Clinical, cytogenetic, and molecular analysis with 46, XX male sex reversal syndrome

X Gao, G Chen, J Huang, Q Bai, N Zhao… - Journal of assisted …, 2013 - Springer
Purpose To investigate the clinical characteristics of different categories of sex-reversed 46,
XX individuals and their relationships with chromosomal karyotype and the SRY gene …

46, XX males: a case series based on clinical and genetics evaluation

F Mohammadpour Lashkari, M Totonchi… - Andrologia, 2017 - Wiley Online Library
Summary 46, XX male sex reversal syndrome is one of the rarest sex chromosomal
aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent …

46, XX sex reversal

JC Zenteno-Ruiz, S Kofman-Alfaro… - Archives of Medical …, 2001 - Elsevier
In humans, sexual differentiation is directed by SRY, a master regulatory gene located at the
Y chromosome. This gene initiates the male pathway or represses the female pathway by …

Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature

B Ergun-Longmire, G Vinci, L Alonso… - Journal of Pediatric …, 2005 - degruyter.com
The main factor influencing the sex determination of an embryo is the genetic sex
determined by the presence or absence of the Y chromosome. However, some individuals …

Molecular analysis of SRY gene in Brazilian 46, XX sex reversed patients: absence of SRY sequence in gonadal tissue.

S Domenice, MY Nishi, AE Billerbeck… - Medical Science …, 2001 - medscimonit.com
BACKGROUND: The importance of the Y chromosome in male determination hasbeen well
established for a long time. The presence of a translocation of chromosomal material …

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 …

Clinical and molecular analysis of XX sex reversed patients

TF KOLON, FA FERRER, PH McKENNA - The Journal of urology, 1998 - Elsevier
PURPOSE: The XX male syndrome presents with a spectrum of clinical appearances from
phenotypic male individuals to true hermaphrodites. Previous reports established the sex …

46, XX SRY-negative true hermaphrodite siblings

FY Dorsey, MH Hsieh, DR Roth - Urology, 2009 - Elsevier
The sex-determining region on the Y chromosome (SRY) gene guides male sexual
development. However, individuals with sex reversal syndrome (46, XX males and 46, XX …

[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 …