Article
Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation.
Thyroid : official journal of the American Thyroid Association - 1 Nov 2005
Vierhapper H, Rondot S, Schulze E, Wagner L, Hanslik S, Niederle B, Bieglmayer C, Kaserer K, Baumgartner-Parzer S
Abstract excerpt
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...
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