scholarly journals A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

2013 ◽  
Vol 2013 (Suppl 1) ◽  
pp. P189
Author(s):  
Elim Man ◽  
Yuet-Ling Tung ◽  
Ho-Ming Luk ◽  
Fai-Man Lo ◽  
Tak-Sum Lam ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Sry Gene ◽  
Complete Gonadal Dysgenesis

scholarly journals CLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME

2019 ◽  
Vol 6 (4) ◽  
pp. 225-228
Author(s):  
Elena V. Timokhina ◽  
N. V Afanas’yeva ◽  
Yu. A Samoylova ◽  
T. M Silayeva ◽  
V. S Belousova ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gonadal Dysgenesis ◽  
Clinical Case ◽  
Reproductive Technology ◽  
Sry Gene ◽  
Successful Pregnancy ◽  
Pregnancy And Delivery ◽  
Complete Form ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis

Swyer syndrome (46,XY complete gonadal dysgenesis) is a rare chromosomal pathology. This pathology occurs with a frequency of 1 in 80,000. In genetic analysis, mutations are most often found in the following genes: the SRY gene, the NR5A1 gene, the SOX9 gene, the MAP3K1 gene. Patients with this disease develop phenotypically as women, but due to the absence of gonads and eggs, independent pregnancy is impossible. This article describes a clinical case of a successful onset, course of pregnancy and delivery in a woman with Swyer syndrome using assisted reproductive technology.

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis

Gene ◽  
2013 ◽  
Vol 526 (2) ◽  
pp. 467-470 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Janusz Szemraj ◽  
Jolanta Słowikowska-Hilczer ◽  
Marek Wieczorek ◽  
...  
Keyword(s):  
Female Patient ◽  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Female

scholarly journals Homozygous DMRT1 mutation c.967G>A found in a Chinese patient with 46,XY complete gonadal dysgenesis and review of literature

2021 ◽  
Author(s):  
Yang Liu ◽  
Zhang Jiaxun ◽  
Zhang Li ◽  
Geng Qian ◽  
Zhiyong Xu ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Chinese Patient ◽  
Chinese Woman ◽  
Homozygous Mutation ◽  
Review Of Literature ◽  
Dmrt1 Gene ◽  
First Case ◽  
Clinicopathologic Findings ◽  
Complete Gonadal Dysgenesis

A Chinese woman with 46,XY CGD was diagnosed by clinicopathologic findings . A homozygous mutation c.967G>A(p. Val323Ile) in the DMRT1 gene was detected in the patient by WES. As far as we know, this is the first case of 46,XY CGD caused by a homozygous mutation in the DMRT1 gene.

scholarly journals Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

1998 ◽  
Vol 11 (S1) ◽  
pp. S110-S111 ◽  
Author(s):  
Fergus J. Cameron ◽  
Matthijs J. Smith ◽  
Garry L. Warne ◽  
Andrew H. Sinclair
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Gonadal Dysgenesis

A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient

Andrologia ◽  
2019 ◽  
Vol 51 (9) ◽  
Author(s):  
Suresh Kumar Raveendran ◽  
Lola Ramachandran ◽  
Lincy Joseph ◽  
Aneesh Kumar Asokan ◽  
Soumya Raj ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Gonadal Dysgenesis ◽  
Sry Gene ◽  
Complete Gonadal Dysgenesis

scholarly journals A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis

2019 ◽  
Vol 21 (5) ◽  
pp. 522 ◽  
Author(s):  
Qun-Ying Zhang ◽  
Qiang Liu ◽  
Xiao-Bo Wang ◽  
Yu-Long Liang ◽  
Zi-Jue Zhu ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Frameshift Mutation ◽  
De Novo ◽  
Sry Gene ◽  
Complete Gonadal Dysgenesis

A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis

1994 ◽  
Vol 3 (7) ◽  
pp. 1187-1189 ◽  
Author(s):  
Toshihiro Tajima ◽  
Jun Nakae ◽  
Nozomi Shinohara ◽  
Kenji Fujieda
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Gonadal Dysgenesis
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