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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
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2191-0251
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Volume 29, Issue 11

Issues

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism

Nurin Jivani
  • Department of Pediatrics, Staten Island University Hospital, Northwell Health, Staten Island, NY, United States of America
  • Other articles by this author:
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/ Carmen Torrado-Jule
  • Division of Pediatric Endocrinology, Staten Island University Hospital, Northwell Health, Staten Island, NY, United States of America
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/ Sarah Vaiselbuh
  • Division of Pediatric Hematology/Oncology, Staten Island University Hospital, Northwell Health, Staten Island, NY, United States of America
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/ Eleny Romanos-Sirakis
  • Corresponding author
  • Division of Pediatric Hematology/Oncology, Staten Island University Hospital, Northwell Health, Staten Island, NY, United States of America
  • Email
  • Other articles by this author:
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Published Online: 2016-10-18 | DOI: https://doi.org/10.1515/jpem-2016-0299

Abstract

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

Keywords: growth hormone deficiency; hypopituitarism; Shwachman Diamond syndrome

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About the article

Corresponding author: Eleny Romanos-Sirakis, MD, Division of Pediatric Hematology/Oncology, Staten Island University Hospital, Northwell Health, 256C Mason Avenue, Staten Island, NY 10305, USA, Phone: 718-226-6400, Fax: 718-226-6434


Received: 2016-07-26

Accepted: 2016-09-08

Published Online: 2016-10-18

Published in Print: 2016-11-01


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 11, Pages 1325–1327, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0299.

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