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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Toppari, Jorma / Turan, Serap Demircioglu


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

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2191-0251
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Volume 28, Issue 1-2

Issues

Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report

Gül Yesiltepe Mutlu
  • Corresponding author
  • Division of Pediatric Endocrinology, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey
  • Email
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  • De Gruyter OnlineGoogle Scholar
/ Heves Kırmızıbekmez
  • Division of Pediatric Endocrinology, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey
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  • De Gruyter OnlineGoogle Scholar
/ Hatip Aydın
  • Center of Genetics Diagnosis, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey
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/ Handan Çetiner
  • Department of Pathology, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey
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  • De Gruyter OnlineGoogle Scholar
/ Serdar Moralıoğlu
  • Department of Pediatric Surgery, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey
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  • De Gruyter OnlineGoogle Scholar
/ Ayşenur Cerrah Celayir
  • Department of Pediatric Surgery, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey
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Published Online: 2014-08-05 | DOI: https://doi.org/10.1515/jpem-2014-0071

Abstract

46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. We highlight the importance of karyotype analysis in patients with delayed puberty and primary amenorrhea. Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy.

Keywords: 46,XY; gonadectomy; pure gonadal dysgenesis; SRY

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About the article

Corresponding author: Gül Yesiltepe Mutlu, Division of Pediatric Endocrinology, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey, Phone: +90 50572357 25, E-mail:


Received: 2014-02-18

Accepted: 2014-06-27

Published Online: 2014-08-05

Published in Print: 2015-01-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 28, Issue 1-2, Pages 207–210, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2014-0071.

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