PMID- 10077364
OWN - NLM
STAT- MEDLINE
DCOM- 19990503
LR  - 20091119
IS  - 0947-7349 (Print)
IS  - 0947-7349 (Linking)
VI  - 107
IP  - 1
DP  - 1999
TI  - Acromegaly in a family without a mutation in the menin gene.
PG  - 93-6
AB  - Familial pituitary tumors are rare. Only 45 cases in 20 families with acromegaly 
      have been reported. A third of the cases (30%) is related to multiple endocrine 
      neoplasia type 1 (MEN 1). We report two cases of acromegaly in one family with 
      pituitary macroadenomas. A 46-year-old woman with elevated serum growth hormone 
      (GH) and insulin-like growth factor (IGF-1) and a failure to supress GH in the 
      glucose tolerance test underwent transsphenoidal surgery 4 years ago. Three years 
      later her 24-year-old son also presented with typical signs of acromegaly. A 
      pituitary macroadenoma was identified by MRT and he also underwent 
      transsphenoidal surgery. There were no symptoms of McCune-Albright syndrome or 
      other forms of endocrine hyperfunction in the two patients. In an attempt to 
      identify the molecular etiology of the tumours DNA was extracted from paraffin 
      fixed tissue from both patients. Exon 7 to 13 of the Gsp-protein and exons 1 to 
      10 of the menin gene were amplified by PCR. Although Gsp mutations have been 
      identified in 40% of somatotroph tumors, direct sequencing of the PCR products 
      showed no mutations in exons 7 to 13 of Gs alpha. Moreover no mutations were 
      found in exons 1 to 10 of the menin gene. Therefore, molecular causes other than 
      Gsp or menin gene mutations have to be considered as the molecular etiology of 
      acromegaly in this family.
FAU - Ackermann, F
AU  - Ackermann F
AD  - III. Medical Department, University of Leipzig, Germany.
FAU - Krohn, K
AU  - Krohn K
FAU - Windgassen, M
AU  - Windgassen M
FAU - Buchfelder, M
AU  - Buchfelder M
FAU - Fahlbusch, R
AU  - Fahlbusch R
FAU - Paschke, R
AU  - Paschke R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Exp Clin Endocrinol Diabetes
JT  - Experimental and clinical endocrinology & diabetes : official journal, German 
      Society of Endocrinology [and] German Diabetes Association
JID - 9505926
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 12629-01-5 (Human Growth Hormone)
RN  - 67763-96-6 (Insulin-Like Growth Factor I)
RN  - EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
SB  - IM
MH  - Acromegaly/*genetics
MH  - Adenoma/diagnosis/*genetics/surgery
MH  - Adult
MH  - Female
MH  - GTP-Binding Protein alpha Subunits, Gs/genetics
MH  - Human Growth Hormone/blood
MH  - Humans
MH  - Insulin-Like Growth Factor I/analysis
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Pituitary Neoplasms/diagnosis/*genetics/surgery
MH  - Polymerase Chain Reaction
MH  - *Proto-Oncogene Proteins
EDAT- 1999/03/17 00:00
MHDA- 1999/03/17 00:01
CRDT- 1999/03/17 00:00
PHST- 1999/03/17 00:00 [pubmed]
PHST- 1999/03/17 00:01 [medline]
PHST- 1999/03/17 00:00 [entrez]
AID - 10.1055/s-0029-1212081 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 1999;107(1):93-6. doi: 10.1055/s-0029-1212081.