A Novel Nonsense Mutation p.L9X in the SRY Gene Causes Complete Gonadal Dysgenesis in a 46,XY Female Patient

2016 ◽  
Vol 7 (4) ◽  
Author(s):  
Asma Tajouri ◽  
Maryem M sahli
Keyword(s):  
Female Patient ◽  
Nonsense Mutation ◽  
Gonadal Dysgenesis ◽  
Sry Gene ◽  
Complete Gonadal Dysgenesis ◽  
Xy Female

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 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 SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis

2016 ◽  
Vol 9 (6) ◽  
pp. 333-337 ◽  
Author(s):  
Silvia Andonova ◽  
Ralitsa Robeva ◽  
Milko Sirakov ◽  
Karela Mainhard ◽  
Analia Tomova ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Gonadal Dysgenesis ◽  
Complete Gonadal Dysgenesis ◽  
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

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

scholarly journals Dysgerminoma presenting at fifty, consequence to undiagnosed Swyer syndrome

2021 ◽  
Vol 10 (8) ◽  
pp. 3249
Author(s):  
Sapna Vinit Amin ◽  
Aswathy Kumaran
Keyword(s):  
High Risk ◽  
Female Patient ◽  
Gonadal Dysgenesis ◽  
Primary Amenorrhea ◽  
Ovarian Malignancy ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Male Karyotype ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis

Swyer syndrome or XY complete gonadal dysgenesis (CGD) is a rare disorder of sex development (DSD) characterized by presence of dysgenetic gonads in a phenotypically female patient with a male karyotype. Usually Swyer syndrome is diagnosed following appropriate evaluation for amenorrhea in adolescence and prophylactic gonadectomy is done as these patients have high risk of developing malignancy in their dysgenetic gonads.  Here we presented patient who presented later in life with ovarian malignancy which turned out to be a consequence of undiagnosed Swyer syndrome. Her case exemplifies that fact that improper evaluation of primary amenorrhea in adolescence and omission to do prophylactic bilateral gonadectomy led to her presenting with malignancy at this advanced age. Therefore, be aware to not let Swyer syndrome go undiagnosed and mismanaged.

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.

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