PMID- 7581969
OWN - NLM
STAT- MEDLINE
DCOM- 19951130
LR  - 20190904
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 133
IP  - 4
DP  - 1995 Oct
TI  - Familial acromegaly: a specific clinical entity--further evidence from the 
      genetic study of a three-generation family.
PG  - 451-6
AB  - Familial acromegaly is a very rare inherited disorder, characterized by the 
      clustering within a single family of several related cases with somatotroph 
      adenomas and acromegaly. The causes of these dominantly inherited pituitary 
      tumours remain unknown. Although these families have a clinical presentation 
      distinct from that of multiple endocrine neoplasia type 1 (MEN-1), the question 
      of this syndrome as being linked to the MEN-1 locus has remained open. Our aim 
      was to study a three-generation family with cases of acromegaly in a mother and 
      her son, to explore better the clinical presentation of the disease, its pattern 
      of inheritance and to test the hypothesis of a genetic linkage to the MEN-1 locus 
      using closely linked polymorphic genetic markers. The refined analysis of 15 
      unaffected relatives revealed miscellaneous non-specific endocrine dysfunctions 
      and the presence of multiple lipomata, as noted previously in some cases. 
      Moreover, the notion of acromegalo-gigantism in the maternal grandmother and an 
      incomplete penetrance appeared even more typical, suggesting that familial 
      acromegaly is a specific clinical entity. Finally, under the hypotheses assumed 
      for segregation analysis, no clinical, biological or genetic evidence of linkage 
      to the MEN-1 locus could be retained in this family. However, these conclusions 
      were limited because of incomplete penetrance and uncertain definition of the 
      carrier status. Therefore, we conclude that further identification of the genetic 
      predisposition to familial acromegaly might be obtained from the combined 
      molecular genetic analysis of several families presenting with the same clinical 
      features.
FAU - Benlian, P
AU  - Benlian P
AD  - Department of Endocrinology and Metabolic Diseases, Pitie Salpetriere Hospital, 
      Paris, France.
FAU - Giraud, S
AU  - Giraud S
FAU - Lahlou, N
AU  - Lahlou N
FAU - Roger, M
AU  - Roger M
FAU - Blin, C
AU  - Blin C
FAU - Holler, C
AU  - Holler C
FAU - Lenoir, G
AU  - Lenoir G
FAU - Sallandre, J
AU  - Sallandre J
FAU - Calender, A
AU  - Calender A
FAU - Turpin, G
AU  - Turpin G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Acromegaly/diagnosis/*genetics
MH  - Adenoma/genetics
MH  - Adult
MH  - Aged
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 11
MH  - Female
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/genetics
MH  - Pedigree
MH  - Pituitary Neoplasms/genetics
EDAT- 1995/10/01 00:00
MHDA- 1995/10/01 00:01
CRDT- 1995/10/01 00:00
PHST- 1995/10/01 00:00 [pubmed]
PHST- 1995/10/01 00:01 [medline]
PHST- 1995/10/01 00:00 [entrez]
AID - 10.1530/eje.0.1330451 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 1995 Oct;133(4):451-6. doi: 10.1530/eje.0.1330451.