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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

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Autoimmune polyendocrinopathy associated with ring chromosome 18

Nina Jain
  • Division of Pediatric Endocrinology, University of North Carolina Children’s Hospital, Chapel Hill, NC, USA
  • Email:
/ Pamela J. Reitnauer
  • Pediatrics, Moses H. Cone Memorial Hospital, Greensboro, NC, USA
/ Kathleen W. Rao
  • Division of Genetics and Metabolism, University of North Carolina Children’s Hospital, Chapel Hill, NC, USA
/ Arthur S. Aylsworth
  • Division of Genetics and Metabolism, University of North Carolina Children’s Hospital, Chapel Hill, NC, USA
  • Department of Genetics, University of North Carolina, Chapel Hill, NC, USA
/ Ali S. Calikoglu
  • Division of Pediatric Endocrinology, University of North Carolina Children’s Hospital, Chapel Hill, NC, USA
Published Online: 2011-09-08 | DOI: https://doi.org/10.1515/JPEM.2011.320

Abstract

Phenotypic and clinical features of individuals with ring chromosome 18 [r(18)] vary with the extent of deletion of the short (18p-) or long arm (18q-). Most patients with r(18), therefore, demonstrate a clinical spectrum of both 18p- and 18q- deletions. Short stature, microcephaly, mental and motor retardation, craniofacial dysmorphism and extremity abnormalities are the most commonly reported features in patients with r(18). Abnormalities of chromosome 18, especially 18p- syndrome, are often reported with autoimmune thyroid disease and growth hormone deficiency, but reports of endocrine abnormalities associated with r(18) are rare. Here, we report a case of an African-American female with hyperthyroidism, type 1 diabetes mellitus, vitiligo and IgA deficiency associated with a r(18) chromosome complement. This patient additionally had mild intellectual disability and dysmorphic features. Karyotype analysis showed a de novo ring chromosome 18 (deletion 18q23-18qter and deletion 18p11.3-18pter). Although this unique association of autoimmune polyglandular endocrinopathy with ring chromosome 18 could be coincidental, we speculate that a gene or genes on chromosome 18 might play a role in the autoimmune process.

Keywords: autoimmune polyendocrinopathy; ring Ch18; type 1 diabetes mellitus

About the article

Corresponding author: Nina Jain, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Endocrinology, CB#7039, 3341 MBRB, University of North Carolina, Chapel Hill, NC 27599-703, USA Phone: +1 9199664435, Fax: +1 9199662423


Received: 2011-06-21

Accepted: 2011-07-31

Published Online: 2011-09-08

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.2011.320. Export Citation

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