CLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract


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.

Full Text

Restricted Access

About the authors

Elena V. Timokhina

I.M. Sechenov First Moscow State Medical University (Sechenov university); S.S. Yudin City Clinical Hospital, Moscow Department of Health

Email: elena.timokhina@mail.ru
119991, Moscow, Russian Federation; 115446, Moscow, Russian Federation
MD, PhD, DSc, Professor of the department of Obstetrics, Gynecology and perinatology of I.M. Sechenov First Moscow State Medical University (Sechenov University), 119435, Moscow, obstetrics and gynecology doctor of S.S. Yudin City Clinical Hospital, Moscow Department of Health, Moscow, Russian Federation

N. V Afanas’yeva

S.S. Yudin City Clinical Hospital, Moscow Department of Health

115446, Moscow, Russian Federation

Yu. A Samoylova

S.S. Yudin City Clinical Hospital, Moscow Department of Health

115446, Moscow, Russian Federation

T. M Silayeva

I.M. Sechenov First Moscow State Medical University (Sechenov university)

119991, Moscow, Russian Federation

V. S Belousova

I.M. Sechenov First Moscow State Medical University (Sechenov university)

119991, Moscow, Russian Federation

M. M Lomovtseva

I.M. Sechenov First Moscow State Medical University (Sechenov university)

119991, Moscow, Russian Federation

L. I Seyfullayeva

I.M. Sechenov First Moscow State Medical University (Sechenov university)

119991, Moscow, Russian Federation

References

  1. King T.F., Conway G.S. Swyer syndrome. Curr. Opin. Endocrinol. Diabetes Obes. 2014; 21(6): 504-10.
  2. Michala L., Goswami D., Creighton S.M., Conway G.S. Swyer syndrome: presentation and outcomes. BJOG. 2008;115(6): 737-41.
  3. U.S. National Library of Medicine; Swyer syndrome. https://ghr.nlm.nih.gov/condition/swyer-syndrome
  4. Clarkson T.B. Estrogen effects on arteries vary with stage of reproductive life and extent of subclinical atherosclerosis progression. Menopause. 2007; 14: 373-84.
  5. Krum S.A, Miranda-Carboni G.A., Hauschka P.V., Carroll J.S., Lane T.F., Freedman L.P. et al. Estrogen protects bone by inducing Fas ligand in osteoblasts to regulate osteoclast survival. EMBO J. 2008; 27: 535-45.
  6. Sauer M.V., Lobo R.A., Paulson R.J. Successful twin pregnancy after embryo donation to a patient with XY gonadal dysgenesis. Am. J. Obstet. Gynecol. 1989; 161 (2): 380-1.

Statistics

Views

Abstract - 30

PDF (Russian) - 0

Cited-By


Article Metrics

Metrics Loading ...

Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies