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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 / Mericq, Veronica / Toppari, Jorma


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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Volume 29, Issue 7

Issues

Sertoli cell only syndrome with ambiguous genitalia

Fatih Gurbuz
  • Corresponding author
  • Ankara Pediatric Hematology and Oncology Training and Research Hospital, Pediatric Endocrinology, 06130 Ankara/Turkey
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/ Serdar Ceylaner / Seyda Erdogan / Ali Kemal Topaloglu / Bilgin Yuksel
Published Online: 2016-04-28 | DOI: https://doi.org/10.1515/jpem-2015-0458

Abstract

The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leydig cells. The SRY positive XX male syndrome is usually diagnosed in adulthood during infertility investigations. Here, we report a rare case of 46,XX maleness with ambiguous genitalia due to Sertoli cell only syndrome (SCOS).

Keywords: ambiguous genitalia; Sertoli cell only syndrome; SRY; 46,XX boy

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About the article

Corresponding author: Fatih Gürbüz, MD, Ankara Pediatric Hematology and Oncology Training and Research Hospital, Pediatric Endocrinology, 06130 Ankara/Turkey, Phone: +90 312 5969665, Mobile: +90 505 7077366, Fax: +90 312 3472330

Number of ESPE Membership: 123115.


Received: 2015-11-28

Accepted: 2016-02-22

Published Online: 2016-04-28

Published in Print: 2016-07-01


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 29, Issue 7, Pages 849–852, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0458.

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