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Case Reports in Endocrinology
Volume 2015 (2015), Article ID 510985, 4 pages
http://dx.doi.org/10.1155/2015/510985
Case Report

Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B

1Department of Endocrinology, Waikato Hospital, Private Bag 3200, Hamilton 3240, New Zealand
2Faculty of Medicine and Health Sciences, University of Auckland, Waikato Clinical Campus, Private Bag 3200, Hamilton 3240, New Zealand
3Department of Surgery, Waikato Hospital, Private Bag 3200, Hamilton 3240, New Zealand
4Department of Pathology, Waikato Hospital, Private Bag 3200, Hamilton 3240, New Zealand
5Department of Radiology, Waikato Hospital, Private Bag 3200, Hamilton 3240, New Zealand

Received 7 May 2015; Revised 1 July 2015; Accepted 2 July 2015

Academic Editor: Hidetoshi Ikeda

Copyright © 2015 Marianne S. Elston et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations in CDKN1B and those patients with primary hyperparathyroidism have almost exclusively been women who present in middle age suggesting that the age of onset of PHPT in MEN4 may be later than that of MEN1. We present a case of apparently sporadic PHPT presenting in adolescence with single gland disease associated with a novel CDKN1B germline mutation (heterozygote for a missense mutation in exon 1 of the CDKN1B gene (c.378G>C) (p.E126D)). The implication from this case is that CDKN1B germline mutations may be associated with PHPT at an earlier age than previously thought.