title: 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.affiliation: Division of Endocrinology and Metabolism, Department for Internal Medicine III, Medical University of Vienna, Austria. h.vierhapper@meduniwien.ac.at
authors.forename: H
authors.initials: H
authors.lastname: Vierhapper
authors.forename: S
authors.initials: S
authors.lastname: Rondot
authors.forename: E
authors.initials: E
authors.lastname: Schulze
authors.forename: L
authors.initials: L
authors.lastname: Wagner
authors.forename: S
authors.initials: S
authors.lastname: Hanslik
authors.forename: B
authors.initials: B
authors.lastname: Niederle
authors.forename: C
authors.initials: C
authors.lastname: Bieglmayer
authors.forename: K
authors.initials: K
authors.lastname: Kaserer
authors.forename: S
authors.initials: S
authors.lastname: Baumgartner-Parzer
mesh_terms: D002118:Calcium / Q000097:blood; D017931:DNA Primers; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000097:blood / Q000235:genetics* / Q000601:surgery; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000097:blood*; D009154:Mutation / Q000502:physiology*; D009767:Obesity, Morbid / Q000150:complications; D010282:Parathyroid Neoplasms / Q000601:surgery; D016105:Parathyroidectomy; D010418:Pentagastrin; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; D010418:Pentagastrin; D002118:Calcium