PMID- 8734291
OWN - NLM
STAT- MEDLINE
DCOM- 19961022
LR  - 20161031
IS  - 0003-4266 (Print)
IS  - 0003-4266 (Linking)
VI  - 57
IP  - 1
DP  - 1996
TI  - [Clinical and genetic study of a familial case of multiple endocrine neoplasia 
      type 1 (MEN 1). From value of multidisciplinary collaboration].
PG  - 64-70
AB  - Multiple Endocrine Neoplasia type 1 (MEN 1) is an autosomal dominant familial 
      syndrome characterized by involvement of several endocrine glands, including 
      parathyroid, pancreatic islet cells, anterior pituitary and diffuse 
      neuroendocrine tissues (carcinoids). The gene causing this syndrome has been 
      localized to chromosome 11 but was not cloned up-to-date. Pre-clinical diagnosis 
      in predisposed MEN 1 families was based on the use of genetic linkage analysis 
      with polymorphic DNA probes flanking the disease locus. The set-up collaborative 
      multi-disciplinar medical and surgical network facilitates further clinical and 
      genetic studies on MEN 1 families. Semiological course of the disease is complex 
      and the main objective in clinical follow-up of patients and related is to limit 
      the probability of misdiagnosis. The present report describe the clinical and 
      genetic analysis in a MEN 1 family and the difficulties related to diagnose the 
      disease. An interesting observation on two cases of hyperprolactinemia by two 
      individuals further excluded by genetic analysis assess the potential risk of 
      bias in genetic linkage studies in non-well documented families. Concerted 
      analysis of genetic and bio-clinical data permitted the evaluation of each 
      patient and to exclude the risk of MEN 1 in all children tested. This example 
      demonstrates the need of a complete clinical information previously to genetic 
      analysis and a multi-disciplinar and collaborative approach in follow-up of 
      patients in each family.
FAU - Guichard, S
AU  - Guichard S
AD  - Service d'Endocrinologie, Hopital Edouard Herriot, Lyon.
FAU - Giraud, S
AU  - Giraud S
FAU - Rousset, H
AU  - Rousset H
FAU - Lenoir, G M
AU  - Lenoir GM
FAU - Salandre, J
AU  - Salandre J
FAU - Hamon, P
AU  - Hamon P
FAU - Chayvialle, J A
AU  - Chayvialle JA
FAU - Riou, J P
AU  - Riou JP
FAU - Calender, A
AU  - Calender A
LA  - fre
PT  - English Abstract
PT  - Journal Article
PT  - Multicenter Study
TT  - Etude clinique et genetique d'une famille predisposee a la neoplasie 
      endocrinienne multiple de type 1 (NEM 1). De l'interet d'une collaboration 
      multidisciplinaire.
PL  - France
TA  - Ann Endocrinol (Paris)
JT  - Annales d'endocrinologie
JID - 0116744
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Female
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*blood/*genetics
MH  - Patient Care Team
MH  - Pedigree
MH  - Risk
EDAT- 1996/01/01 00:00
MHDA- 1996/01/01 00:01
CRDT- 1996/01/01 00:00
PHST- 1996/01/01 00:00 [pubmed]
PHST- 1996/01/01 00:01 [medline]
PHST- 1996/01/01 00:00 [entrez]
PST - ppublish
SO  - Ann Endocrinol (Paris). 1996;57(1):64-70.