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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 32, Issue 1


A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis

Can Ozlu / Gul Yesiltepe Mutlu
  • Corresponding author
  • Koc University School of Medicine, Istanbul 34010, Turkey
  • Department of Pediatric Endocrinology, Koc University Hospital, Davutpasa Street No 4, Zeytinburnu 34010, Turkey, Phone: +905057235725
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Sukru Hatun
  • Koc University School of Medicine, Istanbul, Turkey
  • Department of Pediatric Endocrinology, Koc University Hospital, Zeytinburnu, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2018-12-05 | DOI: https://doi.org/10.1515/jpem-2018-0380



H syndrome ([OMIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3 gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature.

Case presentation

Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T>A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3 gene. She had severe short stature non-responsive to growth hormone (GH) treatment and gluten-free diet despite low GH levels and celiac antibody positivity. She developed insulin dependent diabetes mellitus (IDDM) symptoms 6 years after the initial diagnosis.


H syndrome patients can develop IDDM years after characteristic symptoms. Short stature in H syndrome patients may not respond to GH replacement or gluten-free diet alone.

Keywords: diabetes mellitus; H syndrome; short stature


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About the article

Received: 2018-08-28

Accepted: 2018-11-11

Published Online: 2018-12-05

Published in Print: 2019-01-28

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 32, Issue 1, Pages 89–93, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2018-0380.

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