We report the case of a patient presenting
amenorrhea,
hyperprolactinemia,
headache and nuclear magnetic resonance (NMR) evidence of pituitary macroadenoma. The family history revealed that the patient's father had had a referred sporadic
insulinoma, removed 25 yr before without evidence of other endocrine disorders. Physical examination evidenced a slight neck enlargement. Among biochemical and endocrinological assays performed, only
hyperprolactinemia was observed. Neck ultrasonography (US) revealed a parathyroid enlargement and a
99mTcO4/MIBI scan showed two hyperplasic lesions. Considering the diagnostic suspect of
multiple endocrine neoplasia (MEN1), we performed abdominal US and NMR studies, showing a pancreatic lesion compatible with
neuroendocrine tumor. A total body 111In-DTPA-d-Phe1 -
octreotide scan (
Octreoscan) was also carried out, evidencing no
pituitary tumor uptake but high uptake of the abdominal lesion. After surgery, the histological examination confirmed the two
parathyroid adenomas and four non-functioning pancreatic
neuroendocrine tumors. When the patient was admitted for studying the pituitary lesion and for planning the opportune
therapy, an early and partially subclinical stage of MEN1 was identified, potentially already clear but otherwise undiagnosed, and the genetic state of the patient's relatives, as possible carriers of
DNA mutation, was checked. The
DNA study for germline mutations confirmed the clinical diagnosis of MEN1 syndrome in the patient and evidenced the same MEN1 mutation in her father and twin sister. In this case report, we would like to underline that, still today, a correct anamnesis and physical examination are the cornerstone of clinical approach to the patient. Furthermore, initial good practice approach is necessary to plan the diagnostic iter, enabling clinicians to decide upon the best orientation and interpretation of the results among several complicated and expensive exams.