PMID- 16322378
OWN - NLM
STAT- MEDLINE
DCOM- 20060209
LR  - 20161018
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 153
IP  - 6
DP  - 2005 Dec
TI  - Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low 
      penetrance of the disease.
PG  - 741-6
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome that is 
      characterised by the occurrence of tumours in the parathyroid glands, the 
      endocrine pancreas, the pituitary gland and the adrenal glands and by 
      neuroendocrine carcinoid tumours, often at a young age. The penetrance of MEN1 
      among gene carriers is reported to be high; 82-99% at age 50. We present a 
      patient with a history of parathyroid adenomas also showing signs of acromegaly. 
      He turned out to be a carrier of a MEN1 germ-line mutation in intron 3 (IVS3-6C > 
      G). This germ-line mutation was also found in nine of his family members. 
      However, none of these relatives have developed any MEN1-related lesion yet, 
      although several are older than 60 years. To our knowledge, a MEN1 family with as 
      few clinical features as this family has not been reported to date. Because MEN1 
      patients have an increased risk of developing acromegaly, insulin-like growth 
      factor (IGF-I) levels are monitored periodically. We investigated whether IGF-I 
      levels might serve as a presymptomatic marker for acromegaly; 9% (3/33) of MEN1 
      patients showed temporary IGF-I elevations. One patient (1/3) later developed 
      clinical signs of acromegaly. Possibly, acromegaly in MEN1 is preceded by a 
      transient preacromegalic state.
FAU - Dreijerink, Koen M A
AU  - Dreijerink KM
AD  - Department of Endocrinology, University Medical Centre Utrecht, PO Box 85.500, 
      3508 GA, Utrecht, The Netherlands.
FAU - van Beek, Andre P
AU  - van Beek AP
FAU - Lentjes, Eef G W M
AU  - Lentjes EG
FAU - Post, Jan G
AU  - Post JG
FAU - van der Luijt, Rob B
AU  - van der Luijt RB
FAU - Canninga-van Dijk, Marijke R
AU  - Canninga-van Dijk MR
FAU - Lips, Cornelis J M
AU  - Lips CJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 67763-96-6 (Insulin-Like Growth Factor I)
SB  - IM
MH  - Acromegaly/blood/*etiology/therapy
MH  - Adenoma/genetics
MH  - DNA Mutational Analysis
MH  - Germ-Line Mutation
MH  - Growth Hormone-Secreting Pituitary Adenoma/genetics
MH  - Humans
MH  - Insulin-Like Growth Factor I/analysis
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/blood/*diagnosis/*genetics
MH  - Parathyroid Neoplasms/genetics
MH  - Pedigree
MH  - *Penetrance
EDAT- 2005/12/03 09:00
MHDA- 2006/02/10 09:00
CRDT- 2005/12/03 09:00
PHST- 2005/12/03 09:00 [pubmed]
PHST- 2006/02/10 09:00 [medline]
PHST- 2005/12/03 09:00 [entrez]
AID - 153/6/741 [pii]
AID - 10.1530/eje.1.02022 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2005 Dec;153(6):741-6. doi: 10.1530/eje.1.02022.