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

Marianne S Elston1, Goswin Y Meyer-Rochow2, Michael Dray3

  • 1Department 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.

Case Reports in Endocrinology
|August 11, 2015
PubMed

Insights

Primary hyperparathyroidism (PHPT) in adolescents may be linked to novel CDKN1B gene mutations. This finding suggests an earlier onset for PHPT associated with MEN4 syndrome than previously understood.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Primary hyperparathyroidism (PHPT) in young individuals often results from germline mutations in MEN1, CASR, or CDC73 genes.
  • Germline mutations in CDKN1B are associated with PHPT, typically in middle-aged women, suggesting a later onset (MEN4 syndrome).

Purpose of the Study:

  • To report a case of apparently sporadic PHPT in an adolescent with a novel CDKN1B germline mutation.
  • To investigate the potential for earlier onset of PHPT in cases with CDKN1B mutations.

Main Methods:

  • Case report of an adolescent with PHPT.
  • Genetic analysis identifying a novel heterozygous missense mutation in exon 1 of the CDKN1B gene (c.378G>C) (p.E126D).

Main Results:

  • The patient presented with single-gland disease and PHPT in adolescence.
  • A novel germline mutation in the CDKN1B gene was identified.

Conclusions:

  • CDKN1B germline mutations may be associated with PHPT presenting at a younger age than previously recognized.
  • This case expands the understanding of the clinical spectrum and age of onset for PHPT related to CDKN1B mutations.

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