Open AccessCLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME
Author(s) -
Е.В. Тимохина,
N. V. Afanasyeva,
Yu. A Samoylova,
T. M Silayeva,
V. S. Belousova,
M. M Lomovtseva,
L. I Seyfullayeva
Publication year - 2019
Publication title -
arhiv akušerstva i ginekologii im. v.f. snegireva
Language(s) - English
Resource type - Journals
eISSN - 2687-1386
pISSN - 2313-8726
DOI - 10.18821/2313-8726-2019-6-4-225-228
Subject(s) - testis determining factor , gonadal dysgenesis , pregnancy , dysgenesis , medicine , disease , gynecology , turner syndrome , gene , pathology , genetics , biology , y chromosome
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.