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

Identification of a novel mutation in the SRY gene in a 46, XY female patient

2006 ◽  
Vol 49 (6) ◽  
pp. 494-498 ◽  
Author(s):  
L. Baghernajad Salehi ◽  
O. Scarciolla ◽  
G. Frajese Vanni ◽  
A.M. Nardone ◽  
G. Frajese ◽  
...  
Keyword(s):  
Female Patient ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Female

scholarly journals A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293

2021 ◽  
Author(s):  
Shengfang Qin ◽  
Xueyan Wang ◽  
Yunxing Li
Keyword(s):  
Point Mutation ◽  
Gene Mutation ◽  
Molecular Diagnosis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Sry Gene ◽  
Pathogenic Role ◽  
Common Cause ◽  
Xy Female

SRY gene mutation is a common cause of 46,XY female. We report a 46,XY female with a novel mutation of SRY c.293G>A (p.Trp98ter). Our report provides evidence for a pathogenic role of the SRY gene c.293G>A mutation in an individual and enlarges the spectrum of molecular diagnosis for these patients.

scholarly journals A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

2013 ◽  
Vol 64 (5) ◽  
pp. 398-402 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Edyta Borkowska ◽  
Hanna Moczulska ◽  
Jolanta Słowikowska-Hilczer ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Female Patient ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Xy Female

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 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

Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: A case report

2012 ◽  
Vol 39 (1) ◽  
pp. 442-445 ◽  
Author(s):  
Francesco Battaglia ◽  
Francesco Plotti ◽  
Michela Angelucci ◽  
Alessia Aloisi ◽  
Roberto Angioli
Keyword(s):  
Case Report ◽  
Y Chromosome ◽  
Female Patient ◽  
Novel Mutation ◽  
Xy Female

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

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.

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