PMID- 9024241
OWN - NLM
STAT- MEDLINE
DCOM- 19970311
LR  - 20101118
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 82
IP  - 2
DP  - 1997 Feb
TI  - A kindred with a variant of multiple endocrine neoplasia type 1 demonstrating 
      frequent expression of pituitary tumors but not linked to the multiple endocrine 
      neoplasia type 1 locus at chromosome region 11q13.
PG  - 486-92
AB  - Acromegaly is uncommon in kindreds with multiple endocrine neoplasia type 1 
      (MEN1), whereas primary hyperparathyroidism (PHP) has the highest penetrance of 
      any endocrinopathy. We report an unusual MEN1 kindred with frequent expression of 
      pituitary tumors and a low penetrance of PHP. Four members were found to have 
      disease: PHP in generation I, acromegaly (2 cases) in generation II, and 
      hyperprolactinemia associated with a pituitary tumor in generation III. There was 
      no evidence for PHP in 1 patient with acromegaly (age 60 yr), the patient with 
      hyperprolactinemia and the pituitary tumor (age 22 yr), and 1 asymptomatic 
      obligate carrier (age 50 yr). Screening of 26 members revealed the possible 
      diagnosis of PHP in 1 family member in generation II and possible early 
      acromegaly in 2 members of generation III with elevated serum concentrations of 
      insulin-like growth factor I and insulin-like growth factor-binding protein-3 but 
      normal patterns of pulsatile GH release. Although the predisposing genetic defect 
      in typical MEN1 families has previously been mapped to chromosome location 11q13 
      without evidence of heterogeneity among the 87 families analyzed, linkage of 
      disease in this family to the MEN1 region is unlikely based on haplotype 
      analysis. Localization of the gene(s) responsible for disease in such atypical 
      families may aid in the understanding of the pathogenesis of MEN1. In addition, 
      further study of the earliest changes in patterns of pulsatile GH release in 
      familial acromegaly may allow more insight into the pathogenesis and natural 
      history of this disease.
FAU - Stock, J L
AU  - Stock JL
AD  - Endocrinology Laboratory, University of Massachusetts Medical School, Worcester 
      01605, USA.
FAU - Warth, M R
AU  - Warth MR
FAU - Teh, B T
AU  - Teh BT
FAU - Coderre, J A
AU  - Coderre JA
FAU - Overdorf, J H
AU  - Overdorf JH
FAU - Baumann, G
AU  - Baumann G
FAU - Hintz, R L
AU  - Hintz RL
FAU - Hartman, M L
AU  - Hartman ML
FAU - Seizinger, B R
AU  - Seizinger BR
FAU - Larsson, C
AU  - Larsson C
FAU - Aronin, N
AU  - Aronin N
LA  - eng
GR  - DK-38128/DK/NIDDK NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
SB  - IM
MH  - Acromegaly/genetics
MH  - Aged
MH  - Aged, 80 and over
MH  - *Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - Female
MH  - Genetic Linkage
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - Pituitary Neoplasms/*genetics
EDAT- 1997/02/01 00:00
MHDA- 1997/02/01 00:01
CRDT- 1997/02/01 00:00
PHST- 1997/02/01 00:00 [pubmed]
PHST- 1997/02/01 00:01 [medline]
PHST- 1997/02/01 00:00 [entrez]
AID - 10.1210/jcem.82.2.3730 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1997 Feb;82(2):486-92. doi: 10.1210/jcem.82.2.3730.