Molecular cytogenetic analysis and genetic counseling: a case report of eight 46, XX males and a literature review

F Yue, H Zhang, Q Xi, Y Jiang, L Li, R Liu… - Molecular Cytogenetics, 2019 - Springer
Background 46, XX male syndrome is a rare disorder that usually causes infertility. This
study was established to identify the genetic causes of this condition in a series of 46, XX …

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 …

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 …

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] A case report of an incidental finding of a 46, XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature …

NAJ Ryan, S Akbar - Fertility and sterility, 2013 - Elsevier
OBJECTIVE: To describe and explore the current literature on the rare genetic condition of
46, XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in …

An infertile 45, X male with a SRY-bearing chromosome 13: a clinical case report and literature review

D Peng, YS Zhang, XY Zhang, C Hu, MH Liu… - Journal of assisted …, 2015 - Springer
Purpose Patients with a karyotype of 45, X (monosomy X) normally display a female
phenotype. However, in some rare cases, monosomy X is associated with maleness. Here …

Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome

XY Xia, YX Cui, HY Lu, B Yang, GH Wang… - Zhonghua nan ke xue …, 2007 - europepmc.org
Objective To analyze the clinical, molecular and cytogenetic features of 46, XX (SRY
positive) male syndrome. Methods The clinical features of 4 patients with 46, XX (SRY …

Verification of a cryptic t (Y; 15) translocation in a male with an apparent 45, X karyotype

S Qin, X Wang, J Wang, Z Zhang, X Chen, Y Yin… - Molecular …, 2022 - Springer
Background A rare disease is that an individual with a non-chimeric karyotype of 45, X
develops into a male. We explored the genetic aetiology of an infertile male with an …

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 …

46 XX karyotype during male fertility evaluation; case series and literature review

A Majzoub, M Arafa, C Starks, H Elbardisi… - Asian journal of …, 2017 - journals.lww.com
Forty-six XX disorder of sex development is an uncommon medical condition observed at
times during the evaluation of a man's fertility. The following is a case series and literature …