[HTML][HTML] A rare case of male sex reversal syndrome (46, XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

MA Abd El Salam, NH Ibrahim, NN Eskarous - African Journal of Urology, 2021 - Springer
Background Male sex reversal syndrome is a rare genetic cause of male infertility with an
overall incidence of 1/20,000–1/100,000 males. There is mismatching between the genetic …

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 …

Three cases of rare SRY-negative 46, XX testicular disorder of sexual development with complete masculinization and a review of the literature

BY Lee, SY Lee, YW Lee, SY Kim, JW Kim… - Journal of genetic …, 2016 - koreascience.kr
Purpose: To identify the clinical characteristics of SRY-negative male patients and genes
related to male sex reversal, we performed a retrospective study using cases of 46, XX …

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 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 …

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 …

Molecular genetic analysis on six cases of sex reversal syndrome

G Xiao, Z Xiong, F Lai, Z Chen, L Qiu - Yi Chuan xue bao= Acta …, 1993 - europepmc.org
Southern blot hybridization using Y-specific DNA probes and electrophoretic analysis of the
SRY gene fragment amplified through polymerase chain reaction (PCR) have been …

[HTML][HTML] A 46, XX karyotype in men with infertility: Two new cases and review of the literature

E Kouvidi, H Tsimela, L Lazaros… - Journal of Human …, 2022 - journals.lww.com
Abstract 46, XX male sex reversal syndrome is a rare genetic cause of male infertility. We
report on two new cases of this syndrome in men presenting with hypogonadism and …

[HTML][HTML] 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 …

[引用][C] Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

T Dörk, M Stuhrmann, K Miller, J Schmidtke - Human mutation, 1998 - search.proquest.com
Sex reversal in the presence of a 46, XY karyotype can result from mutations of the testis-
determining gene SRY (“sex-determining region Y”), the protein product of which is an …