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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.

Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation inCDKN1B