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Hormones

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A novel K224T missense mutation in a patient with MEN1 syndrome

  • Joanna Tolin
  • Lisa Reid
  • Robert A. Somer
  • Farah Hena MorganEmail author
Case report
  • 7 Downloads

Dear Editors,

We present a patient with no known family history of endocrine tumors and a presumed de novo novel missense mutation of the MEN1 gene with a K224T amino acid substitution. Although classified as a variant of uncertain significance, given the patient’s clinical disease, we believe this may represent a pathologic disease–causing mutation.

Case description

A 38-year-old man with a history of tobacco abuse presented with recurrent symptomatic nephrolithiasis. Evaluation revealed elevated calcium of 11.8 mg/dl and elevated parathyroid hormone. He was diagnosed with primary hyperparathyroidism and was referred for endocrine surgery for parathyroidectomy. Preoperative localization 99mTc-sestaMIBI scan suggested possible right-sided adenoma; however, intraoperative exploration revealed four-gland hyperplasia necessitating subtotal parathyroidectomy. His intraoperative PTH was reduced from 132 to 45 pg/mL postparathyroidectomy, and pathology revealed nodular hyperplasia of all...

Notes

Acknowledgements

The authors would like to thank Shuang Yan, Ph.D, from GeneDx for providing the genetic information to be included in this case report.

Compliance with ethical standards

Informed consent

Informed consent was obtained from the patient for presentation of his case.

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Thakker RV, Newey PJ et al (2012) Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97(9):2990–3011CrossRefGoogle Scholar
  2. 2.
    Bassett JHD, Forbes SA et al (1998) Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 62:232–244CrossRefGoogle Scholar

Copyright information

© Hellenic Endocrine Society 2019

Authors and Affiliations

  1. 1.Abbington Health SystemAbingtonUSA
  2. 2.Cooper University HospitalCamdenUSA
  3. 3.MD Anderson Cancer Center at CooperCamdenUSA

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