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

Marianne S Elston; Goswin Y Meyer-Rochow; Michael Dray; Michael Swarbrick; John V Conaglen

doi:10.1155/2015/510985

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

Case Rep Endocrinol. 2015:2015:510985. doi: 10.1155/2015/510985. Epub 2015 Jul 14.

Authors

Marianne S Elston¹, Goswin Y Meyer-Rochow², Michael Dray³, Michael Swarbrick⁴, John V Conaglen⁵

Affiliations

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

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.