Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation.

Abstract

Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. The patient has a pentagastrin-induced rise in serum calcitonin (up to 57 pg/ml) considered normal for noncarriers but abnormal in family members of MEN-2 patients. This is the first case of MEN-2 due to this specific mutation with primary hyperparathyroidism as the first manifestation of the disease. In addition, the patient harbored, within the Menin gene, a polymorphism (D418D) reportedly associated with sporadic primary hyperparathyroidism. This case report indicates that molecular biological tests in MEN- 2 may only suggest a certain phenotype but cannot predict it with certainty. It may also suggest that genetic screening for MEN-2 may be advisable in patients with primary hyperparathyroidism and a borderline-high pentagastrin stimulation test, even in the absence of a positive family history.

• Authors: H Vierhapper, S Rondot, E Schulze, L Wagner, S Hanslik, B Niederle, C Bieglmayer, K Kaserer, S Baumgartner-Parzer
• Journal: Thyroid : official journal of the American Thyroid Association (Thyroid) Vol. 15 Issue 11 Pg. 1303-8 (Nov 2005) ISSN: 1050-7256 [Print] United States
• PMID: 16356097 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA Primers
• MAS1 protein, human
• Proto-Oncogene Mas
• Proto-Oncogene Proteins c-ret
• Pentagastrin
• Calcium

Topics

• Calcium (blood)
• DNA Primers
• Female
• Humans
• Hyperparathyroidism (blood, genetics, surgery)
• Middle Aged
• Multiple Endocrine Neoplasia Type 2a (blood)
• Mutation (physiology)
• Obesity, Morbid (complications)
• Parathyroid Neoplasms (surgery)
• Parathyroidectomy
• Pentagastrin
• Proto-Oncogene Mas
• Proto-Oncogene Proteins c-ret (genetics)
• Reverse Transcriptase Polymerase Chain Reaction