46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma
G Velasco, V Savarese, N Sandorfi, SA Jimenez… - Endocrine Practice, 2011 - Elsevier
Objective To describe a case of SRY gene translocation in a man with scleroderma
presenting with primary hypogonadism. Methods We present the clinical, physical …
presenting with primary hypogonadism. Methods We present the clinical, physical …
[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 …
46, XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in …
[PDF][PDF] Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report
CE Pepene, I Coman, D Mihu, M Militaru… - Clin Exp Obstet …, 2008 - researchgate.net
The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex
development) is a rare form of sex reversal with complex mechanisms leading to a large …
development) is a rare form of sex reversal with complex mechanisms leading to a large …
Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature
C Capron, L Januel, G Vieville, S Jaillard, P Kuentz… - …, 2022 - Wiley Online Library
Background The translocation of SRY onto one of the two X chromosomes results in a 46,
XX testicular disorder of sex development; this is supposedly because of non‐allelic …
XX testicular disorder of sex development; this is supposedly because of non‐allelic …
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 …
positive) male syndrome. Methods The clinical features of 4 patients with 46, XX (SRY …
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 …
Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients
E Vorona, M Zitzmann, J Gromoll… - The Journal of …, 2007 - academic.oup.com
Context: The 46, XX male syndrome represents a rare, poorly characterized form of male
hypogonadism. Objective: The objective of the study was to distinguish the 46, XX male …
hypogonadism. Objective: The objective of the study was to distinguish the 46, XX male …
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 …
related to male sex reversal, we performed a retrospective study using cases of 46, XX …
46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management
AA Rizvi - The American journal of the medical sciences, 2008 - Elsevier
This report describes a well-masculinized 33-year-old man with infertility and primary
hypogonadism in whom chromosomal evaluation revealed a 46, XX karyotype. This …
hypogonadism in whom chromosomal evaluation revealed a 46, XX karyotype. This …
46XX testicular disorder of sex development
KC Mantravadi, DG Rao - Journal of Human Reproductive …, 2021 - journals.lww.com
In this case report, we present the case of a 31-year-old man who presented with primary
infertility, azoospermia and occasional sexual dysfunction. History and general physical …
infertility, azoospermia and occasional sexual dysfunction. History and general physical …