PMID- 11081208
OWN - NLM
STAT- MEDLINE
DCOM- 20001219
LR  - 20191104
IS  - 1386-341X (Print)
IS  - 1386-341X (Linking)
VI  - 1
IP  - 3-4
DP  - 1999 May
TI  - Familial acromegaly: case report and review of the literature.
PG  - 273-7
AB  - Familial acromegaly is an exceptional clinical entity when not associated with 
      features of multiple endocrine neoplasia type 1 (MEN1). We report here 3 
      pedigrees in each of which 2 patients have been shown to develop acromegaly. In 4 
      patients, clinical follow-up, and biological screening allowed to confidently 
      exclude MEN1. Absence of mutation in the MEN1 gene after direct DNA analysis in 2 
      pedigrees reinforces the conviction that the families do not have MEN1. In 
      families 1 and 2, diagnosis was made at a very early age and voluminous adenomas 
      with suprasellar expansion were already present at the time of diagnosis. We 
      review the 20 previous reports of familial acromegaly, some of them questionable. 
      Our 3 families, combined with some other published pedigrees, allow the 
      delineation of a familial form of acromegaly, distinct from MEN1. Dominant 
      inheritance with reduced, age-dependant penetrance is the most parsimonious model 
      to explain the recurrences. Gs protein pathway could be the site of action of the 
      gene responsible of familial acromegaly, but no data have been published to 
      sustain or reject this hypothesis.
FAU - Verloes, A
AU  - Verloes A
AD  - Wallonia Centre for human Genetics, Liege University, Belgium.
FAU - Stevenaert, A
AU  - Stevenaert A
FAU - Teh, B T
AU  - Teh BT
FAU - Petrossians, P
AU  - Petrossians P
FAU - Beckers, A
AU  - Beckers A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Pituitary
JT  - Pituitary
JID - 9814578
RN  - 0 (Pituitary Hormones)
SB  - IM
MH  - Acromegaly/*genetics/physiopathology
MH  - Adenoma/genetics/metabolism
MH  - Adult
MH  - Female
MH  - Genes, Dominant
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/genetics
MH  - Pedigree
MH  - Pituitary Hormones/metabolism
MH  - Pituitary Neoplasms/genetics/metabolism
RF  - 40
EDAT- 2000/11/18 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/11/18 11:00
PHST- 2000/11/18 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/11/18 11:00 [entrez]
AID - 10.1023/a:1009958510378 [doi]
PST - ppublish
SO  - Pituitary. 1999 May;1(3-4):273-7. doi: 10.1023/a:1009958510378.