Complete gonadal dysgenesis with XY chromosomal constitution

2006 ◽  
Vol 2 (4) ◽  
pp. 465-470
Author(s):  
Doina Stoicanescu
Keyword(s):  
Gonadal Dysgenesis ◽  
Chromosomal Constitution ◽  
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.

46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

HORMONES ◽  
2019 ◽  
Vol 18 (3) ◽  
pp. 315-320
Author(s):  
Vassos Neocleous ◽  
Pavlos Fanis ◽  
Feride Cinarli ◽  
Vasilis Kokotsis ◽  
Anastasios Oulas ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Familial Case ◽  
Rare Mutation ◽  
Desert Hedgehog ◽  
Complete Gonadal Dysgenesis

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

Pure gonadal dysgenesis with an XY chromosomal constitution (Swyer's syndrome): Report of two cases

1976 ◽  
Vol 124 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Daniel W. Bruneteau ◽  
Ismet B. Sipahioglu ◽  
J.Rogers Byrd ◽  
Robert B. Greenblatt
Keyword(s):  
Gonadal Dysgenesis ◽  
Chromosomal Constitution ◽  
Swyer’S Syndrome ◽  
Syndrome Report

Medical and Psychosexual Outcome in Women Affected by Complete Gonadal Dysgenesis

2006 ◽  
Vol 19 (7) ◽  
Author(s):  
B.M. McCarty ◽  
C.J. Migeon ◽  
H.F.L. Meyer-Bahlburg ◽  
H. Zacur ◽  
A.B. Wisniewski
Keyword(s):  
Gonadal Dysgenesis ◽  
Complete Gonadal Dysgenesis
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