PMID- 10989951
OWN - NLM
STAT- MEDLINE
DCOM- 20010202
LR  - 20091119
IS  - 0947-7349 (Print)
IS  - 0947-7349 (Linking)
VI  - 108
IP  - 5
DP  - 2000
TI  - Concepts for screening and diagnostic follow-up in multiple endocrine neoplasia 
      type 1 (MEN1).
PG  - 334-40
AB  - The recent identification of MEN1 gene mutations as the molecular cause of 
      familial multiple endocrine neoplasia type 1 syndrome (MEN1) has had a 
      significant impact on clinical patient care. In the following consensus statement 
      we will present recommendations for clinical screening and follow-up in patients 
      and relatives with suspected or established MEN1 syndrome. MEN1 mutational 
      analysis should be performed in individuals with newly diagnosed MEN1-typical 
      endocrine neoplasia (e.g., primary hyperparathyroidism, gastroenteropancreatic 
      tumor, pituitary adenoma) if additional diagnostic criteria are met (e.g., age 
      <40 years; positive family history; multifocal or recurrent neoplasia; two or 
      more organ systems affected). Genetic family screening is advisable in first 
      degree relatives of MEN1 patients during early adolescence to reliably assess 
      future MEN1 disease risk. In symptomatic individuals carrying MEN1 germ line 
      mutations, annual clinical and biochemical (calcium, PTH, gastrin, prolactin) 
      follow-up as well as routine pancreatic and pituitary imaging may be complemented 
      as individually needed. In contrast, relatives without family-specific MEN1 
      mutation do not require routine follow-up. Diagnostic procedures and treatment in 
      symptomatic MEN1 mutation carriers and patients may differ from that in sporadic 
      endocrine neoplasia, calling for individual management. Genetic counselling and 
      dedicated endocrine surgery should be integral parts of current medical care in 
      MEN1 syndrome.
FAU - Karges, W
AU  - Karges W
AD  - Department of Internal Medicine, University of Ulm, Munchen, Germany. 
      wolfram.karges@medizin.uni-ulm.de
FAU - Schaaf, L
AU  - Schaaf L
FAU - Dralle, H
AU  - Dralle H
FAU - Boehm, B O
AU  - Boehm BO
LA  - eng
PT  - Journal Article
PT  - Review
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
SB  - IM
CIN - Exp Clin Endocrinol Diabetes. 2000;108(5):327. PMID: 10989949
MH  - Genetic Testing
MH  - Heterozygote
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics
MH  - Mutation
RF  - 10
EDAT- 2000/09/16 11:00
MHDA- 2001/03/03 10:01
CRDT- 2000/09/16 11:00
PHST- 2000/09/16 11:00 [pubmed]
PHST- 2001/03/03 10:01 [medline]
PHST- 2000/09/16 11:00 [entrez]
AID - 10.1055/s-2000-8146 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 2000;108(5):334-40. doi: 10.1055/s-2000-8146.