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Clinical and Experimental Obstetrics & Gynecology  2017, Vol. 44 Issue (2): 314-316    DOI: 10.12891/ceog3447.2017
Case Report Previous articles | Next articles
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation
A. Maharjan1, L. Yao-dan1, H. Li1, *()
1 Department of Obstetrics and Gynaecology, Renmin Hospital of Wuhan University, Wuhan, China
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46,XY pure gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. It is a genetic aberration characterized by a 46,XY karyotype which are phenotypical females, with female genitalia at birth, and normal Mullerian structures. The condition usually becomes apparent first in adolescence with delayed puberty and primary amenorrhea. Herein the authors present the case of a 27-year-old woman with primary amenorrhea and undeveloped breasts. The patient had pure 46,XY gonadal dysgenesis with hypoplastic uterus, estrogen treatment for amenorrhea, and no neoplastic changes on the histopathology report. The authors highlight the high risk of neoplastic transformation of the patient with gonadal dysgenesis, and 46, XY karyotype should be referred for bilateral gonadectomy. Once the diagnosis of Swyer syndrome is established, early treatment is crucial to prevent the development of gonadal malignancy and to enable a normal sex life, and even carry a fetus in an immature uterus.
Key words:  46,XY pure gonadal dysgenesis      Dysgerminoma      Primary amenorrhea      Swyer syndrome     
Published:  10 April 2017     
*Corresponding Author(s):  H. LI     E-mail:

Cite this article: 

A. Maharjan, L. Yao-dan, H. Li. Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(2): 314-316.

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