PMID- 15648555
OWN - NLM
STAT- MEDLINE
DCOM- 20050426
LR  - 20181113
IS  - 0391-4097 (Print)
IS  - 0391-4097 (Linking)
VI  - 27
IP  - 9
DP  - 2004 Oct
TI  - The early diagnosis of multiple endocrine neoplasia type 1 (MEN 1): a case 
      report.
PG  - 878-82
AB  - 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.
FAU - Tamagno, G
AU  - Tamagno G
AD  - Medical Clinic III, Department of Medical and Surgical Sciences, University of 
      Padova, Padova, Italy.
FAU - De Carlo, E
AU  - De Carlo E
FAU - Martini, C
AU  - Martini C
FAU - Rubello, D
AU  - Rubello D
FAU - Fallo, F
AU  - Fallo F
FAU - Sicolo, N
AU  - Sicolo N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (Indium Radioisotopes)
RN  - 0 (Radiopharmaceuticals)
RN  - 51110-01-1 (Somatostatin)
RN  - 971Z4W1S09 (Technetium Tc 99m Sestamibi)
RN  - G083B71P98 (pentetreotide)
SB  - IM
MH  - Adolescent
MH  - Early Diagnosis
MH  - Female
MH  - Germ-Line Mutation
MH  - Humans
MH  - Indium Radioisotopes
MH  - Magnetic Resonance Spectroscopy
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/diagnostic imaging/genetics
MH  - Radionuclide Imaging
MH  - Radiopharmaceuticals
MH  - Somatostatin/*analogs & derivatives
MH  - Technetium Tc 99m Sestamibi
MH  - Ultrasonography
EDAT- 2005/01/15 09:00
MHDA- 2005/04/27 09:00
CRDT- 2005/01/15 09:00
PHST- 2005/01/15 09:00 [pubmed]
PHST- 2005/04/27 09:00 [medline]
PHST- 2005/01/15 09:00 [entrez]
AID - 5198 [pii]
AID - 10.1007/BF03346285 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2004 Oct;27(9):878-82. doi: 10.1007/BF03346285.