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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
Source Normalized Impact per Paper (SNIP) 2016: 0.602

Online
ISSN
2191-0251
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Volume 24, Issue 9-10 (Oct 2011)

Issues

Congenital hypothyroidism in association with chromosome 3p25.3-pter deletion

Atul Malhotra
  • Monash Newborn, Monash Medical Centre, Melbourne, Australia
  • Department of Paediatrics, Monash University, Melbourne, Australia
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Phil Bergman
  • Department of Paediatrics, Monash University, Melbourne, Australia
  • Department of Paediatric Endocrinology, Monash Children’s Hospital, Melbourne, Australia
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Justin Brown
  • Department of Paediatrics, Monash University, Melbourne, Australia
  • Department of Paediatric Endocrinology, Monash Children’s Hospital, Melbourne, Australia
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ George Mc Gillivray
Published Online: 2011-08-25 | DOI: https://doi.org/10.1515/JPEM.2011.331

Abstract

This report describes a case of a neonate presenting with many of the typical phenotypic characteristics of chromosome 3p deletion including hypertelorism, flat nasal bridge, flat philtrum, thin lips and low-set ears. The hands and feet showed post axial polydactyly, single palmar creases and rocker bottom feet. A karyotype confirmed chromosome 3p25.3-pter deletion with normal parental karyotypes. A high TSH was noted on newborn screening and congenital hypothyroidism was confirmed on thyroid function tests. Thyroid nuclear imaging was suggestive of dyshormonogenesis. This is the first reported case of congenital hypothyroidism in an infant with chromosome 3p deletion.

Keywords: chromosome 3; deletion; hypothyroidism

About the article

Corresponding author: Dr Atul Malhotra, Monash Newborn, Monash Medical Centre, 246 Clayton Road, Clayton, Melbourne, Victoria 3168, Australia Phone: +61 3 9594 5192, Fax: +61 3 9594 6115


Received: 2011-06-30

Accepted: 2011-07-27

Published Online: 2011-08-25

Published in Print: 2011-10-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/JPEM.2011.331.

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