PMID- 8626844
OWN - NLM
STAT- MEDLINE
DCOM- 19960621
LR  - 20041117
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 81
IP  - 5
DP  - 1996 May
TI  - Prolactinomas in a large kindred with multiple endocrine neoplasia type 1: 
      clinical features and inheritance pattern.
PG  - 1841-5
AB  - Multiple endocrine neoplasia type 1 (MEN 1) is associated with neoplasia and 
      hyperfunction of the parathyroid and pituitary glands, pancreatic islet cells, 
      and neuroendocrine cells of the gut. The inheritance pattern is autosomal 
      dominant, and the underlying genetic defect is situated at chromosome 11q13. The 
      MEN 1 gene behaves as a defective copy of a normally constitutive tumor 
      suppressor gene. Development of the MEN 1 phenotype, however, is a multistep and 
      multifactorial process. The Tasman 1 genealogy is the largest MEN 1 pedigree 
      detected to date. Thus far, 90 related members with MEN 1 have been screened for 
      evidence of prolactinoma. Prolactinomas were found in 18 patients (20%). 
      Prolactinomas were not evenly distributed in the genealogy; in 2 branches of the 
      overall genealogy prolactinomas were present in 50% or more of MEN 1-affected 
      members. The familial distribution of prolactinomas in these branches was 
      consistent with an autosomal dominant mode of inheritance. In the remainder of 
      the pedigree, prolactinomas were uncommon and did not display this inheritance 
      pattern. This pedigree represents one of the largest published MEN 1 genealogies 
      in which the risk of developing prolactinoma follows an autosomal dominant 
      pattern of transmission. It is the first to demonstrate an inheritance pattern 
      for prolactinomas acting in addition to, yet distinct from, the inheritance of 
      the underlying MEN 1 gene defect. These findings are consistent with the 
      existence of an undefined second genetic defect involved in the pathogenesis of 
      prolactinoma in MEN 1.
FAU - Burgess, J R
AU  - Burgess JR
AD  - Department of Diabetes and Endocrine Services, Royal Hobart Hospital, Australia.
FAU - Shepherd, J J
AU  - Shepherd JJ
FAU - Parameswaran, V
AU  - Parameswaran V
FAU - Hoffman, L
AU  - Hoffman L
FAU - Greenaway, T M
AU  - Greenaway TM
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 11
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism/complications
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pancreatic Diseases/complications
MH  - Pedigree
MH  - Pituitary Neoplasms/*genetics
MH  - Prolactinoma/*genetics
EDAT- 1996/05/01 00:00
MHDA- 1996/05/01 00:01
CRDT- 1996/05/01 00:00
PHST- 1996/05/01 00:00 [pubmed]
PHST- 1996/05/01 00:01 [medline]
PHST- 1996/05/01 00:00 [entrez]
AID - 10.1210/jcem.81.5.8626844 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1996 May;81(5):1841-5. doi: 10.1210/jcem.81.5.8626844.