CLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME
Timokhina E.V., Afanas’yeva N.V., Samoylova Y.A., Silayeva T.M., Belousova V.S., Lomovtseva M.M., Seyfullayeva L.I.
Архив акушерства и гинекологии им. В.Ф. Снегирева
Т. 6, № 4, С. 225-228
Опубликовано: 15 2019
Тип ресурса: Статья
DOI:10.18821/2313-8726-2019-6-4-225-228
Аннотация:
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.
Язык текста: Русский
ISSN: 2313-8726
Timokhina E.V. Elena V.
Afanas’yeva N.V.
Samoylova Y.A. Yu. A
Silayeva T.M.
Belousova V.S.
Lomovtseva M.M.
Seyfullayeva L.I.
Первый Московский государственный медицинский университет им. И. М. Сеченова Минздрава России (Сеченовский Университет)
I. M. Sechenov First Moscow State Medical University (Sechenov University)
S.S. Yudin City Clinical Hospital, Moscow Department of Health
CLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME
Текст визуальный электронный
Архив акушерства и гинекологии им. В.Ф. Снегирева
Eco-Vector
Т. 6, № 4 С. 225-228
2019
беременность
pregnancy
вспомогательные репродуктивные технологии
assisted reproductive technologies
дисгенезия гонад
gonadal dysgenesis
мутации
mutations
синдром Свайера
Swyer syndrome
Статья
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.