Jump to ContentJump to Main Navigation
Show Summary Details
More options …

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

See all formats and pricing
More options …
Volume 29, Issue 7


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
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Serdar Ceylaner / Seyda Erdogan / Ali Kemal Topaloglu / Bilgin Yuksel
Published Online: 2016-04-28 | DOI: https://doi.org/10.1515/jpem-2015-0458


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


  • 1.

    Del Castillo EB, Trabucco A, De La Baize FA. Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J Clin Endocrinol 1947;7:493–502.Google Scholar

  • 2.

    Dauwerse JG, Hansson KB, Brouwers AA, Peters DJ, Breuning MH. An XX male with the sex-determining region Y gene inserted in the long arm of chromossome 16. Fertil Steril 2006;86:463.e2–5.Google Scholar

  • 3.

    Jain M, Veeramohan V, Chaudhary I, Halder A. The Sertoli cell only syndrome and glaucoma in a sex-determining region Y (SRY) positiveXX infertile male. J Clin Diagn Res 2013;7:1457–9.Google Scholar

  • 4.

    Anniballo R, Ubaldi F, Cobellis L, Sorrentino M, Rienzi L, et al. Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. Hum Reprod 2000;15:2269–77.Google Scholar

  • 5.

    Terada T, Hatakeyama S. Morphological evidence for two types of idiopathic ‘Sertoli-cell-only’ syndrome. Int J Androl 1991;14:117–26.Google Scholar

  • 6.

    Nielsen J, Sillesen I. Incidence of chromosome aberrations among 11,148 newborn children. Humangenetik 1975;30:1–12.Google Scholar

  • 7.

    Jain M, Halder A. Sertoli cell only syndrome: status of Sertoli cell maturation and function. Indian J Endocrinol Metab 2012;16:512–3.Google Scholar

  • 8.

    Valetto A, Bertini V, Rapalini E, Simi P. 46, XX SRY-negative man with complete virilization and infertility as the main anomaly. Fertil Steril 2005;83:216–9.Google Scholar

  • 9.

    Sargent CA, Boucher CA, Kirsch S, Brown G, Weiss B, et al. The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. J Med Genet 1999;36:670–7.Google Scholar

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.

Export Citation

©2016 by De Gruyter.Get Permission

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

Farah Ghieh, Valérie Mitchell, Béatrice Mandon-Pepin, and François Vialard
Basic and Clinical Andrology, 2019, Volume 29, Number 1

Comments (0)

Please log in or register to comment.
Log in